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Sample records for dystonia

  1. Dystonias

    Science.gov (United States)

    ... in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have ...

  2. Dystonia: Physical Therapy

    Science.gov (United States)

    ... accompany the dystonia. Under the guidance of a physical therapist and a physician, an individual may learn to ... the dystonia. For information about locating a local physical therapist who specializes in neurological conditions such as dystonia, ...

  3. Forms of Dystonia

    Science.gov (United States)

    ... muscles of the eyelids and brow. ► Cervical dystonia (spasmodic torticollis) : Dystonia that affects the neck and sometimes ... contractions of the face, jaw, and/or tongue. ► Spasmodic dysphonia (laryngeal dystonia) : Dystonia that affects the vocal ...

  4. Bromazepam-induced dystonia.

    Science.gov (United States)

    Pérez Trullen, J M; Modrego Pardo, P J; Vázquez André, M; López Lozano, J J

    1992-01-01

    Benzodiazepines are drugs with a good tolerance that are widely used for the treatment of anxiety. Extrapyramidal side-effects are unusual. Diazepam is effective for the treatment of drug-induced dystonias, nevertheless there are some reports of Diazepam-induced dystonia. We report a case history of a patient who developed oromandibular dystonia after taking Bromazepam. The possible mechanisms that cause drug-induced dystonia are described.

  5. Art and dystonia.

    Science.gov (United States)

    Garcia-Ruiz, Pedro J; Slawek, Jaroslaw; Sitek, Emilia J; Martinez Castrillo, Juan Carlos

    2015-09-15

    Dystonia has a recent history in medicine. Focal dystonia was described in the 19th century by classic authors including Gowers, whilst generalized dystonia was described at the turn of the century. However, it is possible to find precise descriptions of dystonia in art, centuries before the medical definition. We have reviewed several pieces of art (sculpture, painting and literature) across the history that might represent descriptions of dystonia, from ancient period to nowadays. In classic times, the first reference to abnormal postures can be tracked back to the new Empire of Egypt (equinus foot), not to mention some recently described examples of dystonia from the Moche sculptures in Peru or Veracruz culture from Mexico. In Middle Ages it is possible to find many examples of sculptures in European cathedrals representing peasants with dramatic, presumably dystonic postures that coexist with amputation of limbs. This unique combination of dystonia and limb amputation probably represents ergotism. The painters Brueghel, Ribera and Velazquez also represented figures with postures likely to be dystonic. Literature is also a source of precise pre-neurological descriptions, especially during the 19th century. In David Copperfield, Dickens depicts characters with generalized dystonia (Uriah Heep), cervical dystonia (Mr. Sharp) and spasmodic dysphonia (Mr Creakle). Finally, even in modern Art (19th and 20th centuries), there are dramatic descriptions of abnormal postures that are likely to be dystonic, such as painful cervical dystonia (Brancusi), cervical dystonia with sensory trick (Modigliani) and upper limb dystonia (Wyspianski). However some postures presented in works of art may simply be a form of artistic expression and only bear unintentional resemblance to the dystonic postures. Art may be a source of neurological information, and that includes primary and secondary dystonia. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. [Medical treatment of dystonia].

    Science.gov (United States)

    Kachi, T

    2001-12-01

    The treatment of dystonia is exclusively difficult. Recently botulinum toxin has been introduced into the market, but its indication is still limited. Oral administration of high dosage of anticholinergic drugs is firstly recommended for the treatment of dystonia. Effective cases usually do not show obvious side effects. Likely, diazepam is another choice, and the drug usually does not bring any adverse effect in cases with good results. Effects of other drugs such as l-dopa and antidopaminergic agents are still under discussion. In cases with myoclonus and/or tremor clonazepam can be useful for improvement of the phasic symptoms. As the prognosis of dystonia especially that of focal dystonia is not hopeless, the patients with dystonia should be informed of the facts.

  7. How Many Dystonias? Clinical Evidence.

    Science.gov (United States)

    Albanese, Alberto

    2017-01-01

    Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias. Papers describing features of dystonia and diagnostic criteria are critically analyzed and put into historical perspective. Issues and inconsistencies in this lumping effort are discussed, and the currently unmet needs are critically reviewed.

  8. How Many Dystonias? Clinical Evidence

    Science.gov (United States)

    Albanese, Alberto

    2017-01-01

    Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer’s cramp, and other occupational dystonias. Papers describing features of dystonia and diagnostic criteria are critically analyzed and put into historical perspective. Issues and inconsistencies in this lumping effort are discussed, and the currently unmet needs are critically reviewed. PMID:28217105

  9. Lithium - induced tardive dystonia.

    Directory of Open Access Journals (Sweden)

    Chakrabarti S

    2002-10-01

    Full Text Available Tardive dystonia is an uncommon form of chronic dystonia, which usually develops on exposure to neuroleptics. Tardive dystonia (Tdt following lithium therapy has not been previously reported. The case of 38 year old man with bipolar affective disorder who developed tardive dystonia while on maintenance lithium treatment is described. Presentation of Tdt in this patient was fairly characteristic although there was no suggestion of recent neuroleptic exposure. Tdt known to have poor treatment response, responded very well to clozapine, a novel anti-psychotic, in this case. To conclude, Tdt may develop on exposure to drugs other than neuroleptics. An adequate trial to clozapine can prove to be a useful treatment option.

  10. Dystonia: Emotional and Mental Health

    Science.gov (United States)

    ... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

  11. Clinical variants of idiopathic torsion dystonia.

    Science.gov (United States)

    Fahn, S

    1989-06-01

    Some patients with dystonic movements and postures not known to be caused by environmental or degenerative disorders can be segregated from classical-appearing idiopathic torsion dystonia on the basis of distinctive clinical and pharmacologic features. Many of them should be considered within the family of dystonia, as clinical variants of idiopathic torsion dystonia, while others are better classified as being part of other families of dyskinesias. In the former group are paradoxical dystonia, myoclonic dystonia, diurnal dystonia, and dopa-responsive dystonia. The latter group consists of dystonic tics and the various entities comprising paroxysmal dystonia, namely kinesigenic, nonkinesigenic and hypnogenic dystonia.

  12. Employees with Dystonia

    Science.gov (United States)

    ... filters for the computer Situations and Solutions: A student who has dystonia affecting the eyelids was having trouble in the classroom. JAN suggested the avoidance of bright lights, the use of sunglasses, stress reduction techniques, a good night's sleep, and concentration ...

  13. [Therapy of dystonia in Japan].

    Science.gov (United States)

    Mezaki, Takahiro; Hayashi, Akito; Nakase, Hirofumi; Hasegawa, Kazuko

    2005-09-01

    A questionnaire about the treatment of dystonia was sent out to 585 councilors of Societas Neurologica Japonica. One hundred and sixty-eight replies (28.7%) were collected, although some of them were excluded from the analysis because of inappropriateness. 1) The number of patients previously experienced was 100; 17 (10.4%). 2) Oral medication was most often the first line treatment in either of generalized dystonia, blapharospasm, cervical dystonia, and writer's cramp. Botulinum toxin injection was the first or the second line treatment in 147 (87.5%) and 116 (69.0%) respondents for blepharospasm and cervical dystonia, respectively. In these two conditions, the more experienced doctors tended to prefer botulinum toxin injection to the other treatments as the first choice (Cochran-Armitage analysis; p = 0.003 for blepharospasm and p = 0.002 for cervical dystonia). 3) Among the oral drugs, anticholinergics, especially trihexyphenidyl, were the most frequent choice in generalized dystonia, cervical dystonia, and writer's cramp. For blepharospasm, clonazepam was most favored. Sedatives, especially diazepam, were also often the drug of choice in either of these disorders. The favored drugs were not related to the respondent's experience. 4) The success rate of treatment, designated as the percentage of patients who improved through any treatment so much that the respondent was satisfied with it, was the highest in blepharospasm (65.4 +/- 24.1; mean +/- SD), followed by cervical dystonia (41.2 +/- 23.4), writer's cramp (32.9 +/- 22.5), and generalized dystonia (20.4 +/- 19.8). Only in cervical dystonia, the rate was significantly higher in more experienced respondents (regression analysis; p = 0.008). In blepharospasm (p dystonia (p = 0.002), regression analysis indicated that the success rate was higher in the group who preferred botulinum toxin injection to oral medication as the first line treatment. These results indicate that in Japan the treatment of choice for

  14. Reduced pallidal output causes dystonia

    Directory of Open Access Journals (Sweden)

    Atsushi eNambu

    2011-11-01

    Full Text Available Dystonia is a neurological disorder characterized by sustained or repetitive involuntary muscle contractions and abnormal postures. In the present article, we will introduce our recent electrophysiological studies in hyperkinetic transgenic mice generated as a model of DYT1 dystonia and in a human cervical dystonia patient, and discuss the pathophysiology of dystonia on the basis of these electrophysiological findings. Recording of neuronal activity in the awake state of DYT1 dystonia model mice revealed reduced spontaneous activity with bursts and pauses in both internal (GPi and external (GPe segments of the globus pallidus. Electrical stimulation of the primary motor cortex evoked responses composed of excitation and subsequent long-lasting inhibition, the latter of which was never observed in normal mice. In addition, somatotopic arrangements were disorganized in the GPi and GPe of dystonia model mice. In a human cervical dystonia patient, electrical stimulation of the primary motor cortex evoked similar long-lasting inhibition in the GPi and GPe. Thus, reduced GPi output may cause increased thalamic and cortical activity, resulting in the involuntary movements observed in dystonia.

  15. Egon Schiele and dystonia.

    Science.gov (United States)

    Erbguth, Frank J

    2010-01-01

    Egon Schiele was a leading Austrian Expressionist painter who, after the era of Gustav Klimt, strongly influenced the artistic scene in Vienna in the early 20th century. Schiele's depiction of his body in his self-portraits in a twisted, contorted, dystonia-like pose raised questions about the possibility of his suffering from dystonia. However, there are no grounds whatsoever for such a hypothesis. Schiele's conception of distorted, at times bizarre, body postures reflects a concourse of the Expressionist formal style of displaying extroverted emotions and psychic confl icts with the emerging perception of photographs of patients with movement disorders in Vienna's art scene and intellectual circles. There are reliable indications that Schiele knew the images of diseases published in the 'Iconographie Photographique de la Salpetriere' and the later 'Nouvelle Iconographie de la Salpetriere' including hysterical and dystonic postures. The brevity of Schiele's life adds to the popular fantasy of the outlaw who lived fast and died young. In fact, however, his drawings sold well to discerning collectors, and his exhibitions were a financial success, so the myth of Schiele as a sacrificial outcast does not tell the whole story. It may be speculated that the figuration of the pathological body in Schiele's self-portraiture was part of modernist strategizing. Copyright (c) 2010 S. Karger AG, Basel.

  16. Advances in molecular genetic studies of primary dystonia

    Directory of Open Access Journals (Sweden)

    MA Ling-yan

    2013-07-01

    Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

  17. Recurrent dystonia in homocystinuria: a metabolic pathogenesis.

    Science.gov (United States)

    Sinclair, Alex J; Barling, Lucy; Nightingale, Simon

    2006-10-01

    Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine beta-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.

  18. Working capacity and cervical dystonia.

    Science.gov (United States)

    Martikainen, Kirsti K; Luukkaala, Tiina H; Marttila, Reijo J

    2010-03-01

    The objective of this questionnaire study was to assess the effect of cervical dystonia on patients' working capacity. Of the 303 working-aged members of the Finnish Dystonia Association (N = 433) who participated in the study 247 (82%) had cervical dystonia. Their median age was 50 years, the median duration of CD symptoms was 12.3 years. Most (78%) subjects were on botulinum toxin treatment. Ninety-seven (39%) had retired because of CD at a median age of 48 years; 96 (39%) of the subjects were working: 87 full-time and 9 part-time. The remaining participants were on sick leave, unemployed, studying or retired of other reasons. Retirement occurred more than ten years earlier compared with the general Finnish population. All possibilities to help CD patients to continue longer in work should be considered early.

  19. Dystonia : emerging concepts in pathophysiology.

    Directory of Open Access Journals (Sweden)

    Madhusudanan M

    1999-10-01

    Full Text Available The essential pathophysiological feature of dystonia is co-contraction of antagonistic muscles. This may be due to derangement of the spinal cord or cortical mechanism. In the cord, there is disruption of the normal reciprocal inhibition of antagonists during agonist contraction. This decreased reciprocal inhibition is due to reduced presynaptic inhibition of muscle afferent input to the inhibitory interneuron. The reduced presynaptic inhibition may in turn be either due to defective suprasegmental control or to changes in the tonic afferent input to the interneuron from cutaneous and muscle afferents. Alternatively, genesis of dystonia may entirely be a cortical mechanism. Overactivity of the premotor cortices, which receive projections from basal ganglia via ventral thalamus, could result in dystonia by abnormal activation of cortical motor neurons. This may again be due to a dopaminergic dysfunction of basal ganglia.

  20. Sertraline induced acute mandibular dystonia

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    Dhanya Raveendranathan

    2015-01-01

    Full Text Available Specific serotonin reuptake inhibitors have been linked with the occurrence of drug-induced parkinsonism, dystonia, dyskinesia, and akathisia. Here, we describe a patient with a diagnosis of emotionally unstable personality disorder and depression who developed severe mandibular dystonia with sertraline in the absence of concurrent prescription of medications, which have potential action on the dopaminergic system. This case highlights the need for clinicians to be aware of this alarming acute adverse effect with sertraline, which is conventionally considered to be well-tolerated and safe.

  1. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    ... impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may ...

  2. The pathophysiology of primary dystonia.

    Science.gov (United States)

    Berardelli, A; Rothwell, J C; Hallett, M; Thompson, P D; Manfredi, M; Marsden, C D

    1998-07-01

    Co-contraction and overflow of EMG activity of inappropriate muscles are typical features of all dystonic movements whether voluntary or involuntary. Voluntary movements are slow and more variable than normal, and there is particular difficulty switching between component movements of a complex task. Reduced spinal cord and brainstem inhibition is common to many reflex studies (long-latency reflexes, cranial reflexes and reciprocal inhibition). These reflex abnormalities may contribute to the difficulties in voluntary movements but cannot be causal as they can occur outside the clinically involved territory. Clinical and neurophysiological studies have emphasized the possible role of sensory feedback in the generation of dystonic movements. Abnormalities of cortical and basal ganglia function have been described in functional imaging and neurophysiological studies of patients with dystonia and in animal models of primary dystonia. Studies of cortical function have shown reduced preparatory activity in the EEG before the onset of voluntary movements, whilst magnetic brain stimulation has revealed changes in motor cortical excitability. Functional imaging of the brain in primary dystonia has suggested reduced pallidal inhibition of the thalamus with consequent overactivity of medial and prefrontal cortical areas and underactivity of the primary motor cortex during movements. These findings are supported by preliminary neuronal recordings from the globus pallidus and the thalamus at the time of stereotaxic surgery in patients with dystonia. All this evidence suggests that primary dystonia results from a functional disturbance of the basal ganglia, particularly in the striatal control of the globus pallidus (and substantia nigra pars reticulata). This causes altered thalamic control of cortical motor planning and executive areas, and abnormal regulation of brainstem and spinal cord inhibitory interneuronal mechanisms.

  3. Task-specific dystonia: pathophysiology and management.

    Science.gov (United States)

    Sadnicka, Anna; Kassavetis, Panagiotis; Pareés, Isabel; Meppelink, Anne Marthe; Butler, Katherine; Edwards, Mark

    2016-09-01

    Task-specific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only during performance of a specific skilled motor task. This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neurological condition. In this review, we cover phenomenology and its increasingly broad-spectrum risk factors for the disease, critically review pathophysiological theories and evaluate current therapeutic options. We conclude by highlighting the unique features of task-specific dystonia within the wider concept of dystonia. We emphasise the central contribution of environmental risk factors, and propose a model by which these triggers may impact on the motor control of skilled movement. By viewing task-specific dystonia through this new lens which considers the disorder a modifiable disorder of motor control, we are optimistic that research will yield novel therapeutic avenues for this highly motivated group of patients.

  4. White Matter Microstructure in Idiopathic Craniocervical Dystonia

    Science.gov (United States)

    Pinheiro, Giordanna L. S.; Guimarães, Rachel P.; Piovesana, Luiza G.; Campos, Brunno M.; Campos, Lidiane S.; Azevedo, Paula C.; Torres, Fabio R.; Amato-Filho, Augusto C.; França, Marcondes C.; Lopes-Cendes, Iscia; Cendes, Fernando; D’Abreu, Anelyssa

    2015-01-01

    Background Dystonias are hyperkinetic movement disorders characterized by involuntary muscle contractions resulting in abnormal torsional movements and postures. Recent neuroimaging studies in idiopathic craniocervical dystonia (CCD) have uncovered the involvement of multiple areas, including cortical ones. Our goal was to evaluate white matter (WM) microstructure in subjects with CCD using diffusion tensor imaging (DTI) analysis. Methods We compared 40 patients with 40 healthy controls. Patients were then divided into subgroups: cervical dystonia, blepharospasm, blepharospasm + oromandibular dystonia, blepharospasm + oromandibular dystonia + cervical dystonia, using tract-based spatial statistics. We performed a region of interest-based analysis and tractography as confirmatory tests. Results There was no significant difference in the mean fractional anisotropy (FA) and mean diffusivity (MD) between the groups in any analysis. Discussion The lack of DTI changes in CCD suggests that the WM tracts are not primarily affected. PMID:26056610

  5. Tardive Dystonia: Clinical Spectrum and Novel Manifestations

    Directory of Open Access Journals (Sweden)

    R. Jeffrey Davis

    1988-01-01

    Full Text Available Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.

  6. The Environmental Epidemiology of Primary Dystonia

    OpenAIRE

    Defazio, Giovanni; Gigante, Angelo F.

    2013-01-01

    Background Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease. Methods We reviewed controlled studies on possible environmental risk factors for primary early- and late-onset dystonia. Results Environmental factors associated with primary early-o...

  7. Dopaminergic system abnormalities Etiopathogenesis of dystonia

    Institute of Scientific and Technical Information of China (English)

    Shuhui Wu; Huifang Shang; Xiaoyi Zou

    2008-01-01

    BACKGROUND: Much research has focused on the close relationship between etiopathogenesis of dystonia and abnormalities of the dopaminergic system. Nevertheless, details of the mechanism are still not clear.OBJECTIVE: To review studies from the past few years about pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system.RETRIEVAL STRATEGY: Using the key words "dystonia" and "dopamine", PubMed database and SCI databases were searched from January 1990 to December 2005 for relevant English publications. A total of 73 articles were searched and, initially, all articles were selected. Inclusive criteria: studies based on pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system. Exclusive criteria: duplicated studies. A total of 19 articles were extracted after preliminary screening.LITERATURE EVALUATION: The data sources were the PubMed and SCI databases. The types of articles chosen were reviews and original articles.DATA SYNTHESIS: Metabolism and function of dopamine in the central nervous system: the chemical constitution of dopamine is a single benzene ring. The encephalic regions of dopamine synthesis and their fiber projections comprise four nervous system pathways. One of these pathways is the substantia nigra-striatum dopamine pathway, which is a side-loop of the basal ganglia circuitry that participates in movement control and plays a main role in the adjustment of extracorticospinal tract movement. Dopamine can lead to the facilitation of movement. Dystonia and abnormalities of the dopaminergic system: different modes of dopamine abnormality exist in various forms of dystonia. Abnormalities of the dopaminergic system in several primary dystonias: at present, fifteen gene loci of primary dystonia have been reported (DYT1-DYT15). The relationship between abnormalities of the dopaminergic system and the

  8. Intermittent dystonia in Hartnup disease.

    Science.gov (United States)

    Darras, B T; Ampola, M G; Dietz, W H; Gilmore, H E

    1989-01-01

    A 6-month-old girl developed intermittent dystonic posture of the legs and eczematous dermatitis without ataxia. Qualitative and quantitative urine amino acid testing confirmed the diagnosis of Hartnup disease. Cranial computed tomography, electroencephalogram, electromyogram/nerve conduction study, posterior tibial somatosensory evoked potentials, 24-hour electroencephalographic telemetry, and metrizamide myelogram were normal. Spinal fluid hydroxy-indoleacetic acid concentration was less than or equal to 2 S.D. of normal; oral tryptophan loading (70 mg/kg) resulted in a two-fold rise in cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration. Tryptophan administered alone or with nicotinic acid failed to improve the dystonia; however, trihexyphenidyl (1-2 mg/kg/day) dramatically improved it. Hartnup disease should be considered in children with unexplained dystonia.

  9. Deep brain stimulation in the treatment of tardive dystonia

    Institute of Scientific and Technical Information of China (English)

    ZHANG Jian-guo; ZHANG Kai; WANG Zhong-cheng

    2006-01-01

    @@ Dystonia refers to a clinical syndrome in which sustained involuntary muscle contractions result in twisting and repetitive movements, or abnormal postures. Secondary dystonia is associated with acquired or exogenous causes, hereditary neurologic syndromes or neurodegenerative disorders. Tardive dystonia is a special type of secondary dystonia due to exposure to certain medicines such as neuroleptics, with a chronic and persistent extrapyramidal symptoms.

  10. Remission of Tardive Dystonia with ECT.

    Science.gov (United States)

    Kaplan, Zeev; Benjamin, Jonathan; Zohar, Joseph

    1991-01-01

    A 30-year-old patient with tardive dystonia, who had failed to respond to cessation of neuroleptics, placebo, diazepam, biperiden, propranolol, and clonidine, had an impressive response to courses of electroconvulsive therapy (ECT) on three successive trials.

  11. Diphenhydramine-induced acute dystonia.

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    Etzel, J V

    1994-01-01

    A 45-year-old woman was administered oral and intravenous diphenhydramine 25 mg for the treatment of an allergic reaction. Within 2 minutes she rapidly developed trismus, dysarthria, tremors of the upper extremities, left-sided weakness, and diminished consciousness. She was treated with intravenous diazepam and benztropine with good response. After approximately 12 hours the patient's condition was completely resolved except for minor subjective weakness of her left extremities. Her hospital stay was uneventful, and she was discharged after 4 days after refusing rechallenge with the drug. Several cases of acute dystonic reactions secondary to antihistamines have been reported in the literature, four of which involved diphenhydramine. Such reactions may occur after short- or long-term therapy. Most patients experienced rapidly developing trismus, facial dystonia, dysarthria, and occasionally, decreases in consciousness, motor incoordination, and weakness. Because of the widespread availability of diphenhydramine and other antihistamines to the general public, awareness of this effect is of great importance.

  12. Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

    NARCIS (Netherlands)

    Beukers, R. J.; van der Meer, J. N.; van der Salm, S. M.; Foncke, E. M.; Veltman, D. J.; Tijssen, M. A. J.

    Background: Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic postures or movements. Morphometric studies have been performed in other, mainly heterogenous, types of dystonia producing conflicting results. However, all these

  13. Dystonia

    Science.gov (United States)

    ... targets for development of therapies that stop the development of abnormal movements, rather than interfering with downstream events to simply quell the symptoms. Imaging techniques show abnormal activation patterns in motor and sensory brain areas. This is critical to understanding how ...

  14. Dystonias

    Science.gov (United States)

    ... DBS involves surgically implanting small electrodes that are connected to a pulse generator into specific brain regions ... may be an adjunct to other therapeutic approaches. Speech therapy and/or voice therapy can be quite ...

  15. Dystonia Overview - GeneReviews - NCBI Bookshelf [GeneReviews

    Lifescience Database Archive (English)

    Full Text Available uth (oromandibular dystonia, musician's cramp) Larynx (dystonic adductor dysphonia, whispering dysphonia) Ne...same extent throughout the day Action-specific (e.g., musician's dystonia, writer

  16. Genetic classification and molecular mechanisms of primary dystonia

    Institute of Scientific and Technical Information of China (English)

    Xueping Chen; Huifang Shang; Zuming Luo

    2008-01-01

    BACKGROUND: Primary dystonia is a heterogeneous disease, with a complex genetic basis. In previous studies, primary dystonia was classified according to age of onset, involved regions, and other clinical characteristics. With the development of molecular genetics, new virulence genes and sites have been discovered. Therefore, there is a gradual understanding of the various forms of dystonia, based on new viewpoints. There are 15 subtypes of dystonia, based on the molecular level, i.e., DYT1 to DYT15. OBJECTIVE: To analyze the genetic development of dystonia in detail, and to further investigate molecular mechanisms of dystonia. RETRIEVAL STRATEGY: A computer-based online search was conducted in PubMed for English language publications containing the keywords "dystonia and genetic" from January 1980 to March 2007. There were 105 articles in total. Inclusion criteria: ① the contents of the articles should closely address genetic classification and molecular mechanisms of primary dystonia; ② the articles published in recent years or in high-impact journals took preference. Exclusion criteria: duplicated articles. LITERATURE EVALUATION: The selected articles were on genetic classification and molecular genetics mechanism of primary dystonia. Of those, 27 were basic or clinical studies. DATA SYNTHESIS: ① Dystonia is a heterogeneous disease, with a complex genetic basis. According to the classification of the Human Genome Organization, there are 15 dystonia subtypes, based on genetics, i.e., DYT1-DYT15,including primary dystonia, dystonia plus syndrome, degeneration plus dystonia, and paroxysmal dyskinesia plus dystonia. ② To date, the chromosomes of 13 subtypes have been localized; however, DYT2 and DYT4 remain unclear. Six subtypes have been located within virulence genes. Specifically, torsinA gene expression results in the DYT1 genotype; autosomal dominant GTP cyclohydrolase I gene expression and recessive tyrosine hydroxylase expression result in the DYT5

  17. Genetics Home Reference: task-specific focal dystonia

    Science.gov (United States)

    ... and speech. Task-specific focal dystonia can affect people who play sports and engage in other occupations involving repetitive, highly ... and other activities. Severe cases can cause professional disability. Related ... dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is ...

  18. Efficacy of aripiprazole in sulpiride-induced tardive oromandibular dystonia.

    Science.gov (United States)

    Imai, Noboru; Ikawa, Masako

    2011-01-01

    Tardive dystonia is a side effect of dopamine receptor-blocking agents, which are mainly used as antipsychotic drugs. The treatment of tardive dystonia is difficult and often unsuccessful. An 82-year-old woman experienced mandibular deviation to the left due to spasm of the masticatory muscles with involuntary chewing movement and Parkinsonism. She had been treated with sulpiride for motility disorder for 5 years. Parkinsonism almost disappeared after the withdrawal of sulpiride, but tardive oromandibular dystonia showed no improvement. Aripiprazole treatment at 3 mg/day improved tardive oromandibular dystonia without worsening Parkinsonism. Low-dosage aripiprazole may be effective for tardive oromandibular dystonia in patients with no other psychiatric disorder.

  19. Botulinum toxin physiology in focal hand and cranial dystonia.

    Science.gov (United States)

    Karp, Barbara Illowsky

    2012-11-20

    The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dystonia. The physiologic effects of botulinum toxin in these 2 disorders also show both similarities and differences. This paper compares and contrasts the physiology of focal hand and cranial dystonias and of botulinum toxin in the management of these disorders.

  20. Botulinum Toxin Physiology in Focal Hand and Cranial Dystonia

    Directory of Open Access Journals (Sweden)

    Barbara Illowsky Karp

    2012-11-01

    Full Text Available The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dystonia. The physiologic effects of botulinum toxin in these 2 disorders also show both similarities and differences. This paper compares and contrasts the physiology of focal hand and cranial dystonias and of botulinum toxin in the management of these disorders.

  1. The "shirt collar sign" of cervical dystonia.

    Science.gov (United States)

    Silver, Michael R; Hanfelt, John; Factor, Stewart A

    2017-05-01

    The diagnosis of cervical dystonia (CD) is clinical. We describe a physical examination observation that has been noted in CD patients. There is a tendency for their shirt collars to be shifted to one side. We validated this apparently consistent finding by having blinded evaluators rating the symmetry of the shirt collars in CD and non-cervical dystonia control subjects. A high correlation was found between the physical finding which we call "shirt collar sign" and the diagnosis. "Shirt collar sign" may be a helpful sign in diagnosing CD.

  2. A practical approach to management of focal hand dystonia

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2015-01-01

    Full Text Available Dystonia can be focal, segmental, multifocal, generalized, or hemidystonia. Focal dystonia is localized to a specific part of the body. Overall upper limb is more commonly involved in focal dystonia than lower limb and since it starts from hand, focal hand dystonia (FHD is a more accepted terminology. Writer′s cramp and musician dystonia are commonest types of FHD. Typically this dystonia is task specific, but in some patients this specificity may be lost over a period of time. Segmental or generalized dystonia may also start as FHD, so a detailed clinical assessment is required, which should be supplemented by relevant investigations. Treatment includes oral medications, injection botulinum toxin, neurosurgery including neurostimulation, and rehabilitation. Role of injection botulinum toxin has been extensively studied in writer′s cramp patients and found to be effective; however, selection of muscles and techniques of injection are crucial in getting best results.

  3. Neurometabolic disorders are treatable causes of dystonia

    NARCIS (Netherlands)

    Kuiper, A.; Eggink, Wieke; Tijssen, M. A. J.; de Koning, T. J.

    2016-01-01

    A broad range of rare inherited metabolic disorders can present with dystonia. For clinicians, it is important to recognize dystonic features, but it can be complicated by the mixed and complex clinical picture seen in many neurometabolic patients. Careful phenotyping is the first step towards the

  4. Acute dystonia after single dose of bupropion

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    Forouzan Elyasi

    2016-01-01

    Full Text Available Bupropion is an antidepressant that is effective in the treatment of major depressive disorders, smoking cessation, and sexual side effects of selective serotonin reuptake inhibitors. Acute dystonia is characterized by prolonged muscle contraction often represented by spasms of the head and neck muscles as well as occasional jaw clenching and temporomandibular joint syndrome. Although it is believed that dystonia is the result of an abnormality of the basal ganglia, its pathophysiology is still unclear. A few cases of dystonia resulting from bupropion have been reported in prior research papers. This case report discusses a patient who had a neck spasm painful enough to wake him up and dystonic distortion after taking only one dose of 75 mg bupropion. The patient was a young 34-year-old man with a diagnosis of obsessive-compulsive disorder treated with 60 mg fluoxetine. Bupropion was added to his medications because of sexual side effects caused by the fluoxetine. It seems that we must be careful to watch for dystonic symptoms when bupropion is mixed with other drugs that affect serotonin reuptake. Although dystonia is a rare side effect of bupropion, physicians should be aware of it and manage it if it occurs.

  5. Acute dystonia mimicking angioedema of the tongue

    DEFF Research Database (Denmark)

    Rasmussen, Eva Rye; Pallesen, Kristine A U; Bygum, Anette

    2013-01-01

    We report a case of acute dystonia of the face, jaw and tongue caused by metoclopramide and mimicking angioedema. The patient had attacks for several years before the correct diagnosis was made and we present the first ever published video footage of an attack. This adverse drug reaction is known...

  6. Clinical-pathomorphological correlation in patients with symptomatic dystonias

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    Ivanović Nataša

    2002-01-01

    Full Text Available Symptomatic dystonia can be the result of various metabolic, degenerative diseases, the consumption of certain medications or exposure to toxic agents. However, only symptomatic dystonia with focal structural lesion provides a significant "window" for, at least indirect, perception of aetiopa-thogenesis and pathomorphological substratum of idiopathic dystonia. Our study included 57 patients with symptomatic dystonia, which as a base had focal or multifocal lesions, of whom 7 patients had generalized dystonia, 18 hemidystonia, 6 segmental dystonia, 7 torticollis, 6 blepharospasm, 7 hand dystonia, 3 spasmodic dysphonia, and 3 had oromandibular dystonia. Stroke was highly statistically the most frequent cause of structural lesions (33/57 or 58%. Relevant pathomorphological changes were present in 50/57 (88% patients, of whom 25 (50% had lesion in the lenticular nucleus (including individual damage of the putamen and globus pallidus, 12/50 (24% had damage of the thalamus and 6/50 (12% had damage of the brainstem. Generalized dystonia was most frequently associated with bilateral lesion of the putamen, hemidystonia with lesion of contralateral putamen, torticollis with damage of the caudate nucleus, hand dystonia with lesion of the thalamus and blepharospasm with lesion of the upper brainstem.

  7. The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

    Science.gov (United States)

    Kojovic, Maja; Pareés, Isabel; Lampreia, Tania; Pienczk-Reclawowicz, Karolina; Xiromerisiou, Georgia; Rubio-Agusti, Ignacio; Kramberger, Milica; Carecchio, Miryam; Alazami, Anas M; Brancati, Francesco; Slawek, Jaroslaw; Pirtosek, Zvezdan; Valente, Enza Maria; Alkuraya, Fowzan S; Edwards, Mark J; Bhatia, Kailash P

    2013-06-01

    The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions.

  8. The Italian Dystonia Registry: rationale, design and preliminary findings.

    Science.gov (United States)

    Defazio, Giovanni; Esposito, M; Abbruzzese, G; Scaglione, C L; Fabbrini, G; Ferrazzano, G; Peluso, S; Pellicciari, R; Gigante, A F; Cossu, G; Arca, R; Avanzino, L; Bono, F; Mazza, M R; Bertolasi, L; Bacchin, R; Eleopra, R; Lettieri, C; Morgante, F; Altavista, M C; Polidori, L; Liguori, R; Misceo, S; Squintani, G; Tinazzi, M; Ceravolo, R; Unti, E; Magistrelli, L; Coletti Moja, M; Modugno, N; Petracca, M; Tambasco, N; Cotelli, M S; Aguggia, M; Pisani, A; Romano, M; Zibetti, M; Bentivoglio, A R; Albanese, A; Girlanda, P; Berardelli, A

    2017-05-01

    The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.

  9. Midazolam-induced acute dystonia reversed by diazepam

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    Mustafa Komur

    2012-01-01

    Full Text Available Midazolam can induce acute dystonia in childhood. We report the development of acute dystonia in a 6-year-old girl after receiving midazolam as a sedative. Dystonic contractions persisted despite flumazenil and biperiden lactate injections and the patient was treated with diazepam. Acute dystonia was rapidly abolished after the administration of diazepam intravenously. Diazepam may be an effective treatment option in patients who are unresponsive to flumazenil.

  10. Midazolam-induced acute dystonia reversed by diazepam.

    Science.gov (United States)

    Komur, Mustafa; Arslankoylu, Ali Ertug; Okuyaz, Cetin

    2012-07-01

    Midazolam can induce acute dystonia in childhood. We report the development of acute dystonia in a 6-year-old girl after receiving midazolam as a sedative. Dystonic contractions persisted despite flumazenil and biperiden lactate injections and the patient was treated with diazepam. Acute dystonia was rapidly abolished after the administration of diazepam intravenously. Diazepam may be an effective treatment option in patients who are unresponsive to flumazenil.

  11. Midazolam-induced acute dystonia reversed by diazepam

    OpenAIRE

    2012-01-01

    Midazolam can induce acute dystonia in childhood. We report the development of acute dystonia in a 6-year-old girl after receiving midazolam as a sedative. Dystonic contractions persisted despite flumazenil and biperiden lactate injections and the patient was treated with diazepam. Acute dystonia was rapidly abolished after the administration of diazepam intravenously. Diazepam may be an effective treatment option in patients who are unresponsive to flumazenil.

  12. Research Priorities in Limb and Task-Specific Dystonias

    Directory of Open Access Journals (Sweden)

    Sarah Pirio Richardson

    2017-05-01

    Full Text Available Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including

  13. Dopamine Dysfunction in DYT1 Dystonia

    Science.gov (United States)

    2015-07-01

    brains removed. Frontal cortex, caudate-putamen and ventral midbrain were micro- dissected based on anatomical landmarks. Samples of each region from the...is linked to DYT1 dystonia [6]. TorsinA is a member of AAA + ATPase superfamily [6], associated with chaperone like functions in multiple processes...mRNA and protein expression for the same receptor may not correlate with each other), it appears that dopamine receptor expression and function undergo

  14. Biased Visuospatial Attention in Cervical Dystonia.

    Science.gov (United States)

    Chillemi, Gaetana; Formica, Caterina; Salatino, Adriana; Calamuneri, Alessandro; Girlanda, Paolo; Morgante, Francesca; Milardi, Demetrio; Terranova, Carmen; Cacciola, Alberto; Quartarone, Angelo; Ricci, Raffaella

    2017-08-09

    There is increasing evidence of non-motor, sensory symptoms, mainly involving the spatial domain, in cervical dystonia (CD). These manifestations are likely driven by dysfunctional overactivity of the parietal cortex during the execution of a sensory task. Few studies also suggest the possibility that visuospatial attention might be specifically affected in patients with CD. Therefore, we asked whether non-motor manifestations in CD might also comprise impairment of higher level visuospatial processing. To this end, we investigated visuospatial attention in 23 CD patients and 12 matched healthy controls (for age, gender, education, and ocular dominance). The patients were identified according to the dystonia pattern type (laterocollis vs. torticollis). Overall, participants were right-handers, and the majority of them was right-eye dominant. Visuospatial attention was assessed using a line bisection task. Participants were asked to bisect horizontal lines, using their right or left hand. Participants bisected more to the left of true center when using their left hand to perform the task than when using their right hand. However, overall, torticollis patients produced a significantly greater leftward deviation than controls. These data are consistent with preliminary findings suggesting the presence of biased spatial attention in patients with idiopathic cervical dystonia. The presence of an attentional bias in patients with torticollis seem to indicate that alterations of attentional circuits might be implicated in the pathophysiology of this type of CD. (JINS, 2017, 23, 1-11).

  15. Normal eyeblink classical conditioning in patients with fixed dystonia

    NARCIS (Netherlands)

    Janssen, S.; Veugen, L.C.; Hoffland, B.S.; Kassavetis, P.; Rooijen, D.E. van; Stegeman, D.F.; Edwards, Mark J.; Hilten, J.J. van; Warrenburg, B.P.C. van de

    2014-01-01

    Fixed dystonia without evidence of basal ganglia lesions or neurodegeneration typically affects young women following minor peripheral trauma. We use eyeblink classical conditioning (EBCC) to study whether cerebellar functioning is abnormal in patients with fixed dystonia, since this is part of the

  16. Psychiatric disorders, myoclonus dystonia and SGCE : an international study

    NARCIS (Netherlands)

    Peall, Kathryn J; Dijk, Joke M; Saunders-Pullman, Rachel; Dreissen, Yasmine E M; van Loon, Ilke; Cath, Danielle|info:eu-repo/dai/nl/194111423; Kurian, Manju A; Owen, Michael J; Foncke, Elisabeth M J; Morris, Huw R; Gasser, Thomas; Bressman, Susan; Asmus, Friedrich; Tijssen, Marina A J

    OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of

  17. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    DEFF Research Database (Denmark)

    Ha, Ainhi D; Parratt, Kaitlyn L; Rendtorff, Nanna D

    2012-01-01

    Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds...

  18. Therapeutic effects of flunitrazepan in dystonias and torticollis preliminary communication

    Directory of Open Access Journals (Sweden)

    Raul Marino Jr.

    1993-06-01

    Full Text Available A new form of clinical treatment is proposed for dystonias and torticollis using flunitrazepan (FN, a powerful agonist of all benzodiazepine receptors of GABA neurons. FN has a specific effect in dystonic patients, specially those in which the hypnotic effect of this drug is absent or diminished, thus suggesting the existence of two different neurochemical categories of dystonias.

  19. Deep brain stimulation for dystonia : Patient selection and outcomes

    NARCIS (Netherlands)

    Speelman, J. D.; Contarino, M. F.; Schuurman, P. R.; Tijssen, M. A. J.; de Bie, R. M. A.

    2010-01-01

    In a literature survey, 341 patients with primary and 109 with secondary dystonias treated with deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) were identified. In general, the outcomes for primary dystonias were more favourable compared to the secondary forms. For

  20. Serotonergic perturbations in dystonia disorders a systematic review

    NARCIS (Netherlands)

    Smit, M; Bartels, Anna; van Faassen, M; Kuiper, A; Niezen-Koning, K E; Kema, I P; Dierckx, R A; de Koning, T J; Tijssen, M A

    Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions. Emerging data describe high prevalences of non-motor symptoms, including psychiatric co-morbidity, as part of the phenotype of dystonia. Basal ganglia serotonin and serotonin-dopamine

  1. Psychiatric disorders, myoclonus dystonia and SGCE : an international study

    NARCIS (Netherlands)

    Peall, Kathryn J; Dijk, Joke M; Saunders-Pullman, Rachel; Dreissen, Yasmine E M; van Loon, Ilke; Cath, Danielle; Kurian, Manju A; Owen, Michael J; Foncke, Elisabeth M J; Morris, Huw R; Gasser, Thomas; Bressman, Susan; Asmus, Friedrich; Tijssen, Marina A J

    2016-01-01

    OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of p

  2. Idiopathic dystonia clinical, profile of 76 brazilian patients

    Directory of Open Access Journals (Sweden)

    Luiz A. F. Andrade

    1992-12-01

    Full Text Available Dystonia may be classified by age of onset (childhood, adolescence, adult onset, body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized and etiology (idiopathic and symptomatic. We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total. There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients. The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

  3. Rating Scales for Dystonia in Cerebral Palsy: Reliability and Validity

    Science.gov (United States)

    Monbaliu, E.; Ortibus, E.; Roelens, F.; Desloovere, K.; Deklerck, J.; Prinzie, P.; De Cock, P.; Feys, H.

    2010-01-01

    Aim: This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Method: Three raters independently scored videotapes of 10 patients (five males, five females;…

  4. Ritual relieved axial dystonia triggered by gaze-evoked amaurosis.

    Science.gov (United States)

    Jacome, D E

    1997-11-01

    A woman with chronic posttraumatic axial lateropulsion cervical dystonia ("belly dancer's head") found relief of her spontaneous dystonic spasms by the sequential performance of an elaborate motor ritual. During an episode of left optic papillitis caused by central retinal vein occlusion, gaze-evoked amaurosis of the left eye developed, preceded by achromatopsia, during left lateral gaze. Gaze-evoked amaurosis triggered axial dystonia, which was followed by her unique, stereotyped, dystonia-relieving ritual that simulated a slow dance. Visual symptoms improved progressively in 1 year. Eventually, she was unable to trigger her dystonia by eye movements. Spontaneous dystonia remained otherwise unchanged from before the episode of papillitis and was still relieved by her unique ritual.

  5. Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

    Science.gov (United States)

    Waugh, Jeff L.; Kuster, John K.; Levenstein, Jacob M.; Makris, Nikos; Multhaupt-Buell, Trisha J.; Sudarsky, Lewis R.; Breiter, Hans C.; Sharma, Nutan; Blood, Anne J.

    2016-01-01

    Background Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia. Methods We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM) to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7). We used (1) automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2) blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume); and (3) voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus. Results Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region. Conclusions Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches. PMID:27171035

  6. Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

    Directory of Open Access Journals (Sweden)

    Jeff L Waugh

    Full Text Available Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia.We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7. We used (1 automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2 blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume; and (3 voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus.Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region.Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches.

  7. Aripiprazole-induced oculogyric crisis (acute dystonia

    Directory of Open Access Journals (Sweden)

    Jyotik T Bhachech

    2012-01-01

    Full Text Available Aripiprazole is the third generation atypical antipsychotic and a dopamine serotonin system stabilizer (DSS effective against positive and negative symptoms of schizophrenia. It has a low propensity for extrapyramidal side effects, causes minimal weight gain or sedation, produces no elevation in serum prolactin levels, and does not cause prolongation of QTc interval. This case report is of a patient suffering from schizophrenia (paranoid. The patient developed oculogyric crisis (acute dystonia with aripiprazole dose uptitration. Dystonic reaction resolved with promethazine administration. Naranjo′s causality assessment reveals probable association of aripiprazole with oculogyric crisis. A thorough workup and vigilance is required prior to initiation of aripiprazole in the case of schizophrenia.

  8. Acute dystonia with concomitant use of amitriptyline and paroxetine

    Directory of Open Access Journals (Sweden)

    Sachin Ratan Gedam

    2017-01-01

    Full Text Available Amitriptyline and paroxetine are antidepressant agents useful for the treatment depressive disorders. Antidepressant induced extrapyramidal symptoms represent an under recognised but important clinical entity as it can adversely impact treatment adherence. Cases of acute dystonia have been reported with selective serotonin reuptake inhibitors but there are only few cases reporting dystonia on amitriptyline. To add to this literature, we report a case of middle aged female who developed dystonia on amitriptyline while already being treated with paroxetine. So, it is warranted to be aware of combination therapy’s side effects.

  9. How psychogenic is dystonia? Views from past to present.

    Science.gov (United States)

    Munts, Alexander G; Koehler, Peter J

    2010-05-01

    In the last few centuries, there has been a constant sway between organic and psychogenic explanations for dystonia. In the current study, we investigate this history, assuming the perspective of a spectrum from organic to psychogenic, between which ideas were moving. We have focussed on (i) primary generalized dystonia, (ii) cervical dystonia, (iii) writer's cramp and (iv) fixed dystonia related to complex regional pain syndrome. We have studied medical texts published since the 19th century and their references. Jean-Martin Charcot advocated the concept of hysteria, disorders in which, besides predisposition, environmental factors were involved in their pathogenesis. Sigmund Freud introduced psychoanalysis as an explanatory therapy for psychic disorders. Previous theories, together with the lack of an organic substrate for dystonia, made a strong case for psychogenic explanations. Consequently, many dystonia patients were told that they suffered from psychological conflicts and were treated for them. However, after the description of new hereditary cases in the 1950s, the limited efficacy of psychotherapy in torsion dystonia, the effects of surgical treatments and the lesion studies in the 1960s, more physicians became convinced of the organic nature. The culminating point was the discovery of the DYT1 gene in 1997. In the meantime, experts had already convinced the neurological community that cervical dystonia and writer's cramp were focal dystonias, i.e. minor forms of generalized dystonia, and therefore organic disorders. In contrast, the pathophysiology of fixed dystonia related to complex regional pain syndrome remained controversial. Knowledge of this history, which played on the border between neurology and psychiatry, is instructive and reflects the difficulty in discriminating between them. Today, new insights from functional imaging and neurophysiological studies again challenge the interpretation of these disorders, while the border between psychogenic

  10. %611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD [OMIM

    Lifescience Database Archive (English)

    Full Text Available ic and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, c...naffected. FTSD has a frequency of 1 in 3,400 in the general population but increases to 1 in 200 among music... which the proband presented with musician's dystonia: 1 pianist and 2 guitarists...fourth decade. Two affected family members were professional musicians, but had only writer's cramp and no music...ian's dystonia. Conversely, 1 of the probands had both musician's dystonia and writer's cramp. The disor

  11. Efficiency of Vasotropic Therapy in Children with Hypertensive Neurocirculatory Dystonia

    Directory of Open Access Journals (Sweden)

    I.V. Shlimkevych

    2015-03-01

    Full Text Available This paper examines the clinical characteristics of the disease and cerebral blood flow features in patients with hypertensive neurocirculatory dystonia. It is shown that children have pronounced discirculatory changes in the arterial and venous system. They are characterized by dystonia against the background of altered vascular wall stiffness. The use of nootropic agent vinpocetine in comprehensive treatment of patients with hypertensive neurocirculatory dystonia is approved. It is proved that vinpocetine application induces the effective correction of clinical and functional changes and promotes the optimization of key parameters of cerebral blood flow in the majority of surveyed children.

  12. Descending control of muscles in patients with cervical dystonia

    NARCIS (Netherlands)

    Tijssen, MAJ; Munchau, A; Marsden, JF; Lees, A; Bhatia, KP; Brown, P

    2002-01-01

    It was reported recently that specific features in the frequency analysis of electromyographic (EMG) activity in the sternocleidomastoid (SCM) and splenius (SPL) muscles were able to distinguish between rotational idiopathic cervical dystonia (CD) and voluntary torticollis in individual subjects. Th

  13. Oral methylphenidate for the treatment of refractory facial dystonias.

    Science.gov (United States)

    Eftekhari, Kian; Choe, Christina H; Vagefi, M Reza; Gausas, Roberta E; Eckstein, Lauren A

    2015-01-01

    Oral methylphenidate (Ritalin, Novartis) has been reported to alleviate symptoms of benign essential blepharospasm in an off-label application. This series presents 3 patients with refractory periorbital and facial dystonias, including blepharospasm, apraxia of eyelid opening, and oromandibular dystonia unresponsive to standard treatments who experienced a response to oral methylphenidate therapy. While the mechanisms for facial dystonias have not been elucidated, there is evidence to suggest that they are on the spectrum with Parkinson disease. Given the role of dopamine loss in the pathogenesis of Parkinson, the authors' speculate that methylphenidate may be acting on the pathway directly involved in facial dystonias. To the authors' knowledge, this is the first report of a case of successful treatment of blepharospasm refractory to upper eyelid myectomy with methylphenidate monotherapy.

  14. Dystonia not dystopia: effects of the legal high, 'Clockwork Orange'.

    Science.gov (United States)

    Mackey, Helen Elizabeth; Hawksley, Oliver

    2015-12-10

    A 27-year-old man presented to hospital after smoking a legal high named 'Clockwork Orange'. He suffered dystonia, acute kidney injury, rhabdomyolysis, lactic acidosis and a troponin rise. He was treated with procyclidine and intravenous fluids.

  15. Focal dystonia in musicians: From phenomenology to therapy

    Directory of Open Access Journals (Sweden)

    Hans-Christian Jabusch

    2006-01-01

    Full Text Available Background: Musician's dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately 1% of all professional musicians are affected.Etiology and Pathophysiology: The pathophysiology of the disorder is still unclear. Findings include (a reduced inhibition in different levels of the central nervous system, (b maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia, and (c alterations in sensorimotor processing. Epidemiological data demon-strated a higher risk for those musicians who play instruments requiring maximal fine-motorskills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia had more perfectionist tendencies than healthy musicians. These findings streng then the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Hereditary factors may play a greater role than previously assumed. Preliminary findings suggest a genetic contributiont o focal task-specific dystonia with phenotypic variations including musician's dystonia.Treatment: Treatment options for musician's dystonia include pharmacological interventions such as administration of Trihexyphenidyl or Botulinum Toxin-A as well as retraining programs and ergonomic changes in the instrument. A long-term follow-up study was performed in 144 patients with musician's dystonia. The outcome was revealed on average 8.4 years after onset of symptoms. Outcome was assessed by patients' subjective rating of cumulative treatmentresponse and response to individual therapies. Seventy-seven patients (54% reported an alleviation of symptoms: 33% of the patients with Trihexyphenidyl, 49% with Botulinum Toxin, 50% with pedagogical retraining, 56% with unmonitored

  16. Mental rotation and working memory in musicians' dystonia.

    Science.gov (United States)

    Erro, Roberto; Hirschbichler, Stephanie T; Ricciardi, Lucia; Ryterska, Agata; Antelmi, Elena; Ganos, Christos; Cordivari, Carla; Tinazzi, Michele; Edwards, Mark J; Bhatia, Kailash P

    2016-11-01

    Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts. It is unknown whether patients with musicians' dystonia would display similar deficits, reinforcing the concept of shared pathophysiology. Eight patients with musicians' dystonia and eight healthy musicians matched for age, gender and musical education, performed a number of tasks assessing mental rotation of body parts and objects as well as verbal and spatial working memories abilities. There were no differences between patients and healthy musicians as to accuracy and reaction times in any of the tasks. Patients with musicians' dystonia have intact abilities in mentally rotating body parts, suggesting that this disorder relies on a highly selective disruption of movement planning and execution that manifests only upon playing a specific instrument. We further demonstrated that mental rotation of body parts and objects engages, at least partially, different cognitive networks. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Misdiagnoses in children with dopa-responsive dystonia.

    Science.gov (United States)

    Jan, Mohammed M S

    2004-10-01

    Dystonia is a state of continuous contraction of groups of agonist and antagonist muscles resulting in a sustained abnormal posture. Dopa-responsive dystonia was first described in 1976 by Segawa. Patients typically have diurnal variation of their symptoms with worsening at the end of the day and a dramatic response to low-dose L-dopa. This report presents five consecutive children with dopa-responsive dystonia who were misdiagnosed initially as spastic diplegic cerebral palsy, intractable epilepsy, hereditary spastic paraplegia, or a neurodegenerative disorder. There were two males and three females aged 3-13 years (mean 8.6 years). They were monitored for up to 2 years (mean 14.8 months). One had focal, one axial, one segmental, and two generalized dystonia. The dystonia was paroxysmal in two (tiptoe walking and opisthotonus), and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day), including three who were wheelchair-bound for several years. The difficulties in early diagnosis, variability of clinical presentation, and dramatic response to L-dopa will be illustrated. To conclude, dopa-responsive dystonia should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, because it responds so dramatically to L-dopa.

  18. High-throughput mutational analysis of TOR1A in primary dystonia

    Directory of Open Access Journals (Sweden)

    Truong Daniel D

    2009-03-01

    Full Text Available Abstract Background Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia. Methods High resolution melting (HRM was used to examine the entire TOR1A Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia and 250 controls (150 neurologically normal and 100 with other movement disorders. Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia. Results HRM of TOR1A Exon 5 showed high (100% diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the TOR1A ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1 a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2 an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia. Conclusion First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in TOR1A are rarely associated with non-generalized primary dystonia.

  19. Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI

    NARCIS (Netherlands)

    de Vries, Paulien M.; de Jong, Bauke M.; Bohning, Daryl E.; Hinson, Vanessa K.; George, Mark S.; Leenders, Klaus L.

    2012-01-01

    Objective: Clinically normal hand movement with altered cerebral activation patterns in cervical dystonia (CD) may imply cerebral adaptation. Since impaired sensorimotor integration appears to play a role in dystonia, left superior parietal cortex modulation with repetitive transcranial magnetic sti

  20. Sensorimotor skills and focal dystonia are linked to putaminal grey-matter volume in pianists

    DEFF Research Database (Denmark)

    Granert, Oliver; Peller, Martin; Jabusch, Hans-Christian

    2011-01-01

    Focal hand dystonia has been associated with morphometric changes and distorted somatotopic representations in the putamen.......Focal hand dystonia has been associated with morphometric changes and distorted somatotopic representations in the putamen....

  1. Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.

    Science.gov (United States)

    Kimmich, Okka; Molloy, Anna; Whelan, Robert; Williams, Laura; Bradley, David; Balsters, Joshua; Molloy, Fiona; Lynch, Tim; Healy, Daniel G; Walsh, Cathal; O'Riordan, Seán; Reilly, Richard B; Hutchinson, Michael

    2014-05-01

    The pathogenesis of adult-onset primary dystonia remains poorly understood. There is variable age-related and gender-related expression of the phenotype, the commonest of which is cervical dystonia. Endophenotypes may provide insight into underlying genetic and pathophysiological mechanisms of dystonia. The temporal discrimination threshold (TDT)-the shortest time interval at which two separate stimuli can be detected as being asynchronous-is abnormal both in patients with cervical dystonia and in their unaffected first-degree relatives. Functional magnetic resonance imaging (fMRI) studies have shown that putaminal activation positively correlates with the ease of temporal discrimination between two stimuli in healthy individuals. We hypothesized that abnormal temporal discrimination would exhibit similar age-related and gender-related penetrance as cervical dystonia and that unaffected relatives with an abnormal TDT would have reduced putaminal activation during a temporal discrimination task. TDTs were examined in a group of 192 healthy controls and in 158 unaffected first-degree relatives of 84 patients with cervical dystonia. In 24 unaffected first-degree relatives, fMRI scanning was performed during a temporal discrimination task. The prevalence of abnormal TDTs in unaffected female relatives reached 50% after age 48 years; whereas, in male relatives, penetrance of the endophenotype was reduced. By fMRI, relatives who had abnormal TDTs, compared with relatives who had normal TDTs, had significantly less activation in the putamina and in the middle frontal and precentral gyri. Only the degree of reduction of putaminal activity correlated significantly with worsening of temporal discrimination. These findings further support abnormal temporal discrimination as an endophenotype of cervical dystonia involving disordered basal ganglia circuits. © 2014 International Parkinson and Movement Disorder Society.

  2. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

    OpenAIRE

    Mohammad Javad Saeedi Borujeni; Ebrahim Esfandiary; Mostafa Almasi- Dooghaee

    2017-01-01

    Introduction: Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Cas...

  3. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

    Science.gov (United States)

    Raymond, D.; Stoessl, A.J.; Hobson, D.; Nakamura, T.; Pullman, S.; Lefton, D.; Okun, M.S.; Uitti, R.; Sachdev, R.; Stanley, K.; San Luciano, M.; Hagenah, J.; Gatti, R.; Ozelius, L.J.; Bressman, S.B.

    2012-01-01

    Objective: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research. Methods: Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D) ATM mutation and mutations in DYT1 and DYT6. Clinical features of the individuals with dystonia who were harboring ATM mutations were compared with those of individuals without mutations. Result: Genetic analysis revealed a homozygous founder mutation in ATM in 13 members from 3 of the families, and no one harbored DYT6 or DYT1 mutations. Dystonia in ATM families mimicked other forms of early-onset primary torsion dystonia, especially DYT6, with prominent cervical, cranial, and brachial involvement. Mean age at onset was markedly younger in the patients with variant A-T (n = 12) than in patients with other dystonia (n = 23), (12 years vs 40 years, p ataxia on examination, and absence of ocular telangiectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. Many also developed malignancies. Conclusion: Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia. PMID:22345219

  4. Improvement of both dystonia and tics with 60 Hz pallidal deep brain stimulation.

    Science.gov (United States)

    Hwynn, Nelson; Tagliati, Michele; Alterman, Ron L; Limotai, Natlada; Zeilman, Pamela; Malaty, Irene A; Foote, Kelly D; Morishita, Takashi; Okun, Michael S

    2012-09-01

    Deep brain stimulation has been utilized in both dystonia and in medication refractory Tourette syndrome. We present an interesting case of a patient with a mixture of disabling dystonia and Tourette syndrome whose coexistent dystonia and tics were successfully treated with 60 Hz-stimulation of the globus pallidus region.

  5. Muscle selection for treatment of cervical dystonia with botulinum toxin : A systematic review

    NARCIS (Netherlands)

    Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

    2012-01-01

    Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be selecte

  6. Treatment of Myoclonus-Dystonia Syndrome with Tetrabenazine

    Science.gov (United States)

    Luciano, Angelo Y.; Jinnah, H. A.; Pfeiffer, Ronald F.; Truong, Daniel D.; Nance, Martha A.; LeDoux, Mark S.

    2014-01-01

    Background Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy. Methods Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine. Results Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years. Conclusions A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D. PMID:25406829

  7. Bilateral segmental dystonia in a professional tennis player.

    Science.gov (United States)

    Mayer, F; Topka, H; Boose, A; Horstmann, T; Dickhuth, H H

    1999-08-01

    Dystonias occur frequently as repetitive movements, persistent elevations of muscle tone, or tonic contortions, whereby the cause is assumed to be an impairment of basal ganglia function. Focal dystonias are especially known in musicians, although little is reported on focal dystonias in athletic stress. The present case report describes the case of a 34-yr-old professional tennis player with bilateral segmental dystonia. The symptoms were expressed in involuntary movements when he intended to hit the ball and in a progredient tremor, initially in one hand, later in both, making him unable to write. The altered mobility during athletic stress was confirmed by video analysis, the altered innervation with excessive, uncoordinated impulse influx by means of electromyography during sport-type specific stress, and writing incapacity during a writing test. The symptoms abated under therapy with trihexyphenidyl-HCL, so that the patient has been able to work as a tennis coach with improved athletic performance for the past 3 yr. It is concluded that the various forms of dystonia should be included in the differential diagnosis of impaired coordinative movements under athletic exercise, especially of the upper extremities.

  8. Delays to the diagnosis of cervical dystonia.

    Science.gov (United States)

    Bertram, Kelly L; Williams, David R

    2016-03-01

    The diagnosis of cervical dystonia (CD) is based on physical examination and is therefore reliant on clinician experience. Due to variability of presenting symptoms it may be misdiagnosed, thus delaying the provision of effective treatment. We sought to determine the average time taken to make a diagnosis of CD in our clinical cohort and explore contributing factors to diagnostic delay. Forty-nine patients with a diagnosis of CD attending a movement disorder specialist for treatment completed a questionnaire regarding symptoms and clinical interactions at onset and diagnosis. The mean time from symptom onset to diagnosis was 6.8 years (range 0-53 years). More than 50% of patients sought physical therapies initially, prior to consulting their general practitioner. Only 40% of patients sought medical advice within the first 6 months of symptom onset and only 10% were given an initial diagnosis of CD. The first referral from the general practitioner was to a specialist other than a neurologist in 31% of patients. Patients were seen by a mean of three doctors (range one to nine) before being given the correct diagnosis of CD. Delay to diagnosis of CD may in part be due to lack of awareness of the condition amongst health care professionals. Improved diagnostic skill appears likely to have had a substantial impact on the delivery of appropriate treatment in this population.

  9. Bilateral dystonia in type 1 diabetes: a case report

    Directory of Open Access Journals (Sweden)

    Yasuhara Akihiro

    2008-11-01

    Full Text Available Abstract Introduction Diabetic hemichorea-hemiballismus is a rare complication of type 2 diabetes. Here, we report a case with type 1 diabetes, with hemichorea and bilateral dystonia manifested as hyperglycemia-induced involuntary movement. Case presentation A 62-year-old Japanese women with body weight loss of 30 kg during the past year developed symptoms of thirst, polydipsia and polyuria. She also presented with hemichorea and bilateral dystonia for 5 days and extremely high plasma glucose (774 mg/dl, hemoglobin A1c (21.2% and glycated albumin (100% with ketosis. Based on the presence of glutamic acid decarboxylase antibodies (18,000 U/ml; normal Conclusion Hyperglycemia-induced involuntary movement is one of the manifestations of dystonia and hemichorea-hemiballism.

  10. Shock Waves in the Treatment of Muscle Hypertonia and Dystonia

    Directory of Open Access Journals (Sweden)

    Laura Mori

    2014-01-01

    Full Text Available Since 1997, focused shock waves therapy (FSWT has been reported to be useful in the treatment of muscle hypertonia and dystonia. More recently, also radial shock wave therapy (RSWT has been successfully used to treat muscle hypertonia. The studies where FSWT and RSWT have been used to treat muscle hypertonia and dystonia are reviewed in this paper. The more consistent and long lasting results were obtained in the lower limb muscles of patients affected by cerebral palsy with both FSWT and RSWT and in the distal upper limb muscles of adult stroke patients using FSWT. The most probable mechanism of action is a direct effect of shock waves on muscle fibrosis and other nonreflex components of muscle hypertonia. However, we believe that up to now the biological effects of shock waves on muscle hypertonia and dystonia cannot be clearly separated from a placebo effect.

  11. Reorganization of the Human Somatosensory Cortex in Hand Dystonia

    Directory of Open Access Journals (Sweden)

    Maria Jose Catalan

    2012-05-01

    Full Text Available Background and Purpose: Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET can be use to demonstrate functional localization of receptive fields. Methods: A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H215O PET. Results: The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished. Conclusions: These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.

  12. What is new in tics, dystonia and chorea?

    Science.gov (United States)

    Macerollo, Antonella; Martino, Davide

    2016-08-01

    Movement disorders comprise hyperkinetic involuntary movements (eg tremor, myoclonus, tics, dystonia and chorea) and hypokinetic (parkinsonism) disorders. Tics are cardinal features of primary tic disorders encompassing Tourette syndrome (TS), but are also found in some neurodegenerative conditions and may be induced by psychoactive substances. The first line treatment for tics is pharmacological (mainly dopamine receptor blockers or alpha-2 adrenergic agonists) and behavioural. Dystonia and chorea syndromes are considerably heterogeneous in aetiology, and age at onset, body distribution of the movement disorder, accompanying neurological motor and non-motor features, and systemic manifestations are all important to reach a correct aetiological diagnosis. While symptomatic pharmacological treatment remains the mainstay of treatment for choreas, deep brain stimulation surgery has a well-defined place in the management of medically refractory dystonia.

  13. Regaining motor control in musician's dystonia by restoring sensorimotor organization.

    Science.gov (United States)

    Rosenkranz, Karin; Butler, Katherine; Williamon, Aaron; Rothwell, John C

    2009-11-18

    Professional musicians are an excellent model of long-term motor learning effects on structure and function of the sensorimotor system. However, intensive motor skill training has been associated with task-specific deficiency in hand motor control, which has a higher prevalence among musicians (musician's dystonia) than in the general population. Using a transcranial magnetic stimulation paradigm, we previously found an expanded spatial integration of proprioceptive input into the hand motor cortex [sensorimotor organization (SMO)] in healthy musicians. In musician's dystonia, however, this expansion was even larger. Whereas motor skills of musicians are likely to be supported by a spatially expanded SMO, we hypothesized that in musician's dystonia this might have developed too far and now disrupts rather than assists task-specific motor control. If so, motor control should be regained by reversing the excessive reorganization in musician's dystonia. Here, we test this hypothesis and show that a 15 min intervention with proprioceptive input (proprioceptive training) restored SMO in pianists with musician's dystonia to the pattern seen in healthy pianists. Crucially, task-specific motor control improved significantly and objectively as measured with a MIDI (musical instrument digital interface) piano, and the amount of behavioral improvement was significantly correlated to the degree of sensorimotor reorganization. In healthy pianists and nonmusicians, the SMO and motor performance remained essentially unchanged. These findings suggest that the differentiation of SMO in the hand motor cortex and the degree of motor control of intensively practiced tasks are significantly linked and finely balanced. Proprioceptive training restored this balance in musician's dystonia to the behaviorally beneficial level of healthy musicians.

  14. Development of acute dystonia in three brothers due to metoclopramide

    Directory of Open Access Journals (Sweden)

    Ibrahim Silfeler

    2012-01-01

    Full Text Available One of the agents that cause dystonic reactions is metoclopramide. In this study, we presented three individuals of the same family who were admitted to our hospital while receiving the treatment of metoclopramide because of developing acute dystonic reaction. Appropriate doses of metoclopramide therapy had begun to all brothers with a diagnosis of gastroenteritis. After receiving the first dose of medication, acute dystonia was observed within half an hour in these brothers who used metoclopramide. Thus, if there is a patient who developed acute dystonia in the same family due to metoclopramide, avoiding from use of metoclopramide will be beneficial for other members of the family.

  15. [Paradoxical kinesis phenomenon in focal hand dystonia--writer's cramp].

    Science.gov (United States)

    Shavlovskaia, O A; Orlova, O R; Golubev, V L

    2005-01-01

    Paradoxical kinesis (PK) phenomenon and its variants, exerting a beneficial influence on dystonia dynamics, are described using self clinical examination of 57 writer's cramp patients. PK was found in all the patients independently of writer's cramp variant, duration and severity. The most frequent writing maneuvers were as follows: hand printed (100%), proximal arm muscles writing (82.5%), individually selected writing instrument (67.5-80%), unusual means (67.5-75%), writing imitation with unlike-pen object (70%), marked papers (52.5%). The beneficial influence of PK phenomenon on dystonia expression may be considered as one of the directions of writer's cramp rehabilitation.

  16. Overuse Cervical Dystonia: A Case Report and Literature Review

    Science.gov (United States)

    Hogg, Elliot; Tagliati, Michele

    2016-01-01

    Background Overuse or task-specific dystonia has been described in a number of professions characterized by repetitive actions, typically affecting the upper extremities. Cervical dystonia (CD), however, has rarely been associated with overuse. Case Report We present a case report of typical CD that developed in the context of chronic repetitive movements associated with the patient’s professional occupation as an office manager who spent many hours per day holding a phone to his ear. Discussion Overuse CD should be suspected when typical symptoms and signs of CD develop in the context of chronic repetitive use or overuse of cervical muscles, especially where exacerbating tasks involve asymmetric postures. PMID:27708983

  17. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

    DEFF Research Database (Denmark)

    Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja

    2009-01-01

    on to develop generalised dystonia. Thus, two of three patients with early-onset generalised dystonia with orobulbar involvement had mutations in THAP1. One of the identified patients with DYT6 dystonia had two family members with subtle motor signs who also carried the same mutation. A rare substitution...... increase the risk of dystonia. FUNDING: Deutsche Forschungsgemeinschaft; Volkswagen Foundation; Dystonia Medical Research Foundation; University of Lübeck....

  18. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-01-01

    Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed\\/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer\\'s cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician\\'s dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35\\/41 (85%), the tactile task in 35\\/41 (85%) and the mixed task in 26\\/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer\\'s cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.

  19. Motor unit abnormalities in Dystonia musculorum mice.

    Directory of Open Access Journals (Sweden)

    Yves De Repentigny

    Full Text Available Dystonia musculorum (dt is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene. While the primary pathology lies in the sensory neurons of dt mice, the overt movement disorder suggests motor neurons may also be affected. Here, we report on the contribution of motor neurons to the pathology in dt(27J mice. Phenotypic dt(27J mice display reduced alpha motor neuron cell number and eccentric alpha motor nuclei in the ventral horn of the lumbar L1 spinal cord region. A dramatic reduction in the total number of motor axons in the ventral root of postnatal day 15 dt(27J mice was also evident. Moreover, analysis of the trigeminal nerve of the brainstem showed a 2.4 fold increase in number of degenerating neurons coupled with a decrease in motor neuron number relative to wild type. Aberrant phosphorylation of neurofilaments in the perikaryon region and axonal swellings within the pre-synaptic terminal region of motor neurons were observed. Furthermore, neuromuscular junction staining of dt(27J mouse extensor digitorum longus and tibialis anterior muscle fibers showed immature endplates and a significant decrease in axon branching compared to wild type littermates. Muscle atrophy was also observed in dt(27J muscle. Ultrastructure analysis revealed amyelinated motor axons in the ventral root of the spinal nerve, suggesting a possible defect in Schwann cells. Finally, behavioral analysis identified defective motor function in dt(27J mice. This study reveals neuromuscular defects that likely contribute to the dt(27J pathology and identifies a critical role for dystonin outside of sensory neurons.

  20. A Beautician's Dystonia: Long-Lasting Effect of Botulinum Toxin

    Science.gov (United States)

    Di Martino, Siria; Dalise, Stefania; Lamola, Giuseppe; Venturi, Martina; Rossi, Bruno; Chisari, Carmelo

    2014-01-01

    Treatment options for dystonia are not curative but symptomatic; the treatment of choice for focal dystonias is repeated botulinum toxin injections. Here, we present the case of a 46-year-old beautician with focal dystonia in her left hand that affected her ability to work. Pharmacological treatment with clonazepam and gabapentin failed to resolve her symptoms and was discontinued due to side effects (sleepiness, gastrointestinal disorders). Intramuscular injection of botulinum toxin (incobotulinumtoxinA, Xeomin) into the extensor digitorum communis (35 U), flexor carpi radialis (35 U), and flexor digitorum superficialis (30 U) muscles resulted in complete resolution of symptoms at clinical assessments at 1, 3, 6, and 10 months after the injections, confirmed by the results of surface electromyography 10 months after treatment. The patient was able to work again 1 month after treatment. No reinjection has been necessary at the last evaluation (12 months after treatment). In conclusion, botulinum toxin is an effective treatment for focal dystonia that can have long-lasting effects and can improve patients' ability to work and quality of life. PMID:25143844

  1. Neurophysiological evidence for cerebellar dysfunction in primary focal dystonia.

    NARCIS (Netherlands)

    Teo, J.T.; Warrenburg, B.P.C. van de; Schneider, S.A.; Rothwell, J.C.; Bhatia, K.P.

    2009-01-01

    Recent studies have suggested that there may be functional and structural changes in the cerebellum of patients with adult onset primary focal dystonia. The aim of this study was to establish whether there is any neurophysiological indicator of abnormal cerebellar function, using the classic eyeblin

  2. Risk factors for idiopathic dystonia in Queensland, Australia.

    Science.gov (United States)

    Newman, Jeremy R B; Boyle, Richard S; O'Sullivan, John D; Silburn, Peter A; Mellick, George D

    2014-12-01

    It is currently hypothesised that a combination of genetic and environmental factors underlies the development of idiopathic isolated dystonia (IID). In this study, we examined several possible environmental or other non-genetic factors that may influence the risk for IID in Queensland, Australia. We surveyed several environmental exposures, lifestyle factors, medical and family histories to investigate potential risk factors for IID. Associations between putative risk factors and IID were assessed using a total of 184 dystonia patients and 1048 neurologically-normal control subjects sampled from Queensland between 2005 and 2012. Our analyses revealed that anxiety disorders, depression, tremor, cigarette smoking and head injuries with a loss of consciousness were associated with increased risk for IID (prisk for dystonia increased with higher cigarette smoking pack-year quartiles in our analyses. Our results suggest possible environmental factors that influence the development of IID and complement the findings of similar dystonia risk factor studies. Further investigation defining the environmental and other non-genetic risk factors for IID may provide insight into the development of the disorder in genetically-susceptible individuals.

  3. Paramedical treatment in primary dystonia : a systematic review

    NARCIS (Netherlands)

    Delnooz, Cathérine C S; Horstink, Martin W I M; Tijssen, Marina A; van de Warrenburg, Bart P C

    2009-01-01

    Dystonia is a disabling movement disorder with a significant impact on quality of life. The current therapeutic armamentarium includes various drugs, botulinum toxin injections, and occasionally (neuro)surgery. In addition, many patients are referred for paramedical (including allied health care) in

  4. Normal cortical excitability in Myoclonus-Dystonia - A TMS study

    NARCIS (Netherlands)

    van der Salm, S. M. A.; van Rootselaar, A. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Bour, L. J.; Bhatia, K. P.; Rothwell, J. C.; Tijssen, M. A. J.

    2009-01-01

    Objective: The aim of the present study is to investigate cortical excitability in patients with DYT 11 positive Myoclonus-Dystonia (M-D), using transcranial magnetic stimulation (TMS). Methods: Silent period, motor evoked potential (MEP) recruitment curve short interval intracortical, inhibition (S

  5. Paramedical treatment in primary dystonia: a systematic review.

    NARCIS (Netherlands)

    Delnooz, C.C.S.; Horstink, M.W.I.M.; Tijssen, M.A.; Warrenburg, B.P.C. van de

    2009-01-01

    Dystonia is a disabling movement disorder with a significant impact on quality of life. The current therapeutic armamentarium includes various drugs, botulinum toxin injections, and occasionally (neuro)surgery. In addition, many patients are referred for paramedical (including allied health care)

  6. Unmet Needs in the Management of Cervical Dystonia

    NARCIS (Netherlands)

    Contarino, Maria Fiorella; Smit, Marenka; van den Dool, Joost; Volkmann, Jens; Tijssen, Marina A. J.

    2016-01-01

    Cervical dystonia (CD) is a movement disorder which affects daily living of many patients. In clinical practice, several unmet treatment needs remain open. This article focuses on the four main aspects of treatment. We describe existing and emerging treatment approaches for CD, including botulinum t

  7. Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia

    NARCIS (Netherlands)

    Bonilha, Leonardo; de Vries, Paulien M.; Hurd, Mark W.; Rorden, Chris; Morgan, Paul S.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

    2009-01-01

    There are quantifiable abnormalities in water diffusion properties of the white matter in thalamic and prefrontal areas in patients with idiopathic dystonia (ID). However, it is unclear which pathways are disrupted in these patients. Using probabilistic tractography of high resolution DTI, we recons

  8. Bilateral pallidotomy for generalized dystonia Palidotomia bilateral para distonias generalizadas

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    2001-06-01

    Full Text Available OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM. Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58% was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure.As distonias generalizadas são freqüentemente um desafio terapêutico, com pobres respostas aos tratamentos farmacológicos. As cirurgias estereotáxicas, como a palidotomia, têm sido utilizadas com êxito no tratamento da doença de Parkinson e estudos

  9. Jaw-opening oromandibular dystonia secondary to Wilson's Disease treated with botulinum toxin type A

    Directory of Open Access Journals (Sweden)

    Hélio A.G. Teive

    2012-06-01

    Full Text Available We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD, in which the patients were treated with botulinum toxin type A (BTX-A. In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A.

  10. Task-specific singing dystonia: vocal instability that technique cannot fix.

    Science.gov (United States)

    Halstead, Lucinda A; McBroom, Deanna M; Bonilha, Heather Shaw

    2015-01-01

    Singer's dystonia is a rare variation of focal laryngeal dystonia presenting only during specific tasks in the singing voice. It is underdiagnosed since it is commonly attributed to technique problems including increased muscle tension, register transition, or wobble. Singer's dystonia differs from technique-related issues in that it is task- and/or pitch-specific, reproducible and occurs independently from the previously mentioned technical issues.This case series compares and contrasts profiles of four patients with singer's dystonia to increase our knowledge of this disorder. This retrospective case series includes a detailed case history, results of singing evaluations from individual voice teachers, review of singing voice samples by a singing voice specialist, evaluation by a laryngologist with endoscopy and laryngeal electromyography (LEMG), and spectral analysis of the voice samples by a speech-language pathologist. Results demonstrate the similarities and unique differences of individuals with singer's dystonia. Response to treatment and singing status varied from nearly complete relief of symptoms with botulinum toxin injections to minor relief of symptoms and discontinuation of singing. The following are the conclusions from this case series: (1) singer's dystonia exists as a separate entity from technique issues, (2) singer's dystonia is consistent with other focal task-specific dystonias found in musicians, (3) correctly diagnosing singer's dystonia allows singer's access to medical treatment of dystonia and an opportunity to modify their singing repertoire to continue singing with the voice they have, and (4) diagnosis of singer's dystonia requires careful sequential multidisciplinary evaluation to isolate the instability and confirm dystonia by LEMG and spectral voice analysis. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  11. Dystonia Caused by Metoclopramide Use in Hyperemesis Gravidarum: A Case Report

    OpenAIRE

    Bülent Çakmak; Ahmet Karataş

    2014-01-01

    Metoclopramide is an anti-emetic drug used frequently in hyperemesis gravidarum with dopamine receptor antagonistic properties. Acute dystonia is a rare side effect of metoclopramide encountered especially in children and young adults at first 3 days of treatment. In this case report, dystonia developed after metoclopramide treatment in a woman with hyperemesis gravidarum is presented and it is emphasized that in women with hyperemesis gravidarum, dystonia might be regarded as a side effect o...

  12. Precise Muscle Selection Using Dynamic Polyelectromyography for Treatment of Post-stroke Dystonia: A Case Report

    OpenAIRE

    Jung, Tae Min; Kim, Ae Ryoung; Lee, Yoonju; Kim, Dae-Hyun; Kim, Deog Young

    2016-01-01

    Dystonia has a wide range of causes, but treatment of dystonia is limited to minimizing the symptoms as there is yet no successful treatment for its cause. One of the optimal treatment methods for dystonia is chemodenervation using botulinum toxin type A (BTX-A), alcohol injection, etc., but its success depends on how precisely the dystonic muscle is selected. Here, we reported a successful experience in a 49-year-old post-stroke female patient who showed paroxysmal repetitive contractions in...

  13. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  14. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2015-11-01

    neuroanatomical substrate that causes motor dysfunction in dystonia. 2. KEYWORDS adeno-associated virus (AAV); antisense oligonucleotide (ASO); RNA...behavioral testing/sacrifice (month 5): completed by month 6 5) Molecular and histological analyses (months 8-14): ongoing analysis. Protein lysates and... Molecular and histological analyses (months 8-14): ongoing analysis. Protein lysates and mRNA preps have been obtained and are ready for analysis

  15. A child with progressive dystonia, dysarthria, and spasticity.

    Science.gov (United States)

    Schrock, Lauren E; Ostrem, Jill L

    2010-01-01

    Children presenting with progressive neurologic symptoms including dystonia, dysarthria, and spasticity can represent a diagnostic challenge. Here we describe the case of a 14-year-old boy who presented to our center with an 11-year history of gradual worsening neurologic symptoms. Diagnostic strategies focus on the use of neuroimaging and genetic testing to help establish the underlying diagnosis. Therapeutic options are also discussed.

  16. Descending control of muscles in patients with cervical dystonia.

    Science.gov (United States)

    Tijssen, Marina A J; Münchau, Alex; Marsden, John F; Lees, Andrew; Bhatia, Kailash P; Brown, Peter

    2002-05-01

    It was reported recently that specific features in the frequency analysis of electromyographic (EMG) activity in the sternocleidomastoid (SCM) and splenius (SPL) muscles were able to distinguish between rotational idiopathic cervical dystonia (CD) and voluntary torticollis in individual subjects. Those with CD showed an abnormal drive to muscles at 5 to 7 Hz and an absence of the normal 10 to 12 Hz peak in the autospectrum of SPL. We sought to determine whether the same abnormalities in the frequency domain are found in complex CD, in which the head is displaced in more than two planes. EMG activity was recorded in the SCM, SPL, trapezius, and levator scapulae muscles bilaterally in 10 patients with complex CD. Frequency analysis of EMG was compared with conventional clinical and polymyographic assessment. The autospectrum of SPL during free dystonic contraction showed an absence of a significant peak at 10 to 12 Hz in 8 of the 10 patients. The presence of a 5 to 7 Hz frequency drive showed a significant association with muscle pairs determined as dystonic by means of polymyography (P analysis correlated, suggesting that a low-frequency drive to neck muscle may be a general feature of simple rotational and more complex cervical dystonia. The pattern of coherence between the EMG in different neck muscles may provide a means of identifying leading dystonic muscles, especially in patients with complex cervical dystonia.

  17. Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

    Science.gov (United States)

    Koppel, Barbara S

    2015-10-01

    Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

  18. Neural correlates of abnormal sensory discrimination in laryngeal dystonia

    Directory of Open Access Journals (Sweden)

    Pichet Termsarasab

    2016-01-01

    Full Text Available Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD, who exhibited different clinical phenotypes (adductor vs. abductor forms and potentially different genotypes (sporadic vs. familial forms. We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

  19. A CASE REPORT OF DOPA-RESPONSIVE DYSTONIA

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Dopa-responsive dystonia (DRD) is a variant of childhood-onset idiopathic torsion dystonia(ITD).The clinical features of DRD include onset with dystonia, usually affecting gait; the concurrent or later development of signs of parkinsonism in most affected individuals; and a dramatic therapeutic response to levodopa (1). Here we reported a case of DRD and made a discussion. CASE REPORT The boy patient aged 15 years old was admitted to PUMC hospital in May 1997 because of abnormal gait of 6 years accompanied by tremor of arms. He came from Hebei province. The patient developed well until he gradually felt difficulties in walking. The symptoms started from left lower extremity and gradually affected the right one in the fall of 1992, and he had a left foot operation for “ equinovarus” then. The symptoms progressed insidiously, and tremor developed to both hands. The patient's symptoms improved after sleep but worsened during the day, especially in the afternoon. Before admission, the patient was given anticholinergic drug with some improvement for his tremor and rigidity. When he came to this hospital recently he was wheelchair limited. No positive family history was obtained.

  20. Sleep in patients with primary dystonia: A systematic review on the state of research and perspectives.

    Science.gov (United States)

    Hertenstein, Elisabeth; Tang, Nicole K Y; Bernstein, Celia J; Nissen, Christoph; Underwood, Martin R; Sandhu, Harbinder K

    2016-04-01

    Patients with primary dystonia, the third most prevalent movement disorder, suffer from a markedly reduced quality of life. This might, at least in part, be mediated by non-motor symptoms, including sleep disturbances. Characterising and treating sleep disturbances might provide new inroads to improve relevant patient-centred outcomes. This review evaluates the state of research on sleep in patients with dystonia and outlines an agenda for future research. A literature search was performed in July 2014 using PubMed, Medline via Ovid, PsycInfo, PsycArticles via Proquest and Embase via Ovid. Search results were screened for eligibility by two independent raters. Peer-reviewed publications reporting on sleep in patients with primary dystonia were included. Of 1445 studies identified through the search strategy, 18 met the inclusion criteria. In total, the included studies reported on 708 patients diagnosed with focal dystonia (cervical dystonia or blepharospasm), torsion dystonia, and dopa-responsive dystonia. The results indicate that at least half of the patients with focal cranial dystonia suffer from sleep disturbances, but excessive daytime sleepiness is uncommon. Sleep disturbance is associated with depressive symptoms. The frequency and duration of dystonic movements is markedly reduced during sleep. Reduced sleep quality appears to persist after treatment with botulinum toxin that successfully reduces motor symptoms. The findings are limited by a high clinical and methodological heterogeneity. Future research is needed to i) further characterize subjective and PSG sleep in patients with different types of dystonia, ii) determine the aetiology of sleep disturbances (e.g., abnormal brain function associated with dystonia, side effects of medication, psychological reasons), and iii) test whether targeted sleep interventions improve sleep and quality of life in patients with primary dystonia.

  1. Distonias: aspectos terapêuticos Dystonias: therapeutic aspects

    Directory of Open Access Journals (Sweden)

    João Carlos Papaterra Limongi

    1996-03-01

    Full Text Available Diversas abordagens terapêuticas são utilizadas em pacientes com distonias. Sempre que possível, causas específicas devem ser identificadas e tratadas. As modalidades de tratamento sintomático podem ser agrupadas em três categorias: tratamento farmacológico, cirúrgico e injeções locais de toxina botulínica. Cada uma dessas modalidades apresenta algumas vantagens e limitações. Formas generalizadas, particularmente as de ocorrência na infância, podem se beneficiar com drogas anticolinérgicas ou, em alguns casos, com a levodopa ou outros agentes tais como antagonistas da dopamina, baclofeno e benzodiazepínicos. As formas focais não respondem adequadamente ao tratamento farmacológico sistêmico mas beneficiam-se significativamente com injeções de toxina botulínica nos grupos musculares acometidos. Cerca de 90% dos pacientes com blefarospasmo e 70% daqueles com distonia cervical apresentam resposta satisfatória a esse tipo de terapia. O tratamento cirúrgico tem sido utilizado em algumas formas de distonias generalizadas (lesões estereotáxicas, axiais (rizotomias ou focais (miectomias e neurectomias com resultados variáveis.Several approaches have been employed for the treatment of dystonias. Possible specific causes should be searched for and specific treatment should be instituted. Different types of symptomatic treatment are grouped according to the following categories: pharmacological systemic therapy, surgical therapy and botulinum toxin injections in the affected muscles. Each of these approaches has its advantages and limitations. Generalized dystonias should be treated with anticholinergic agents. In some cases, levodopa or other drugs such as dopamine antagonists, baclofen and benzodiazepines should be preferred. Focal dystonias respond dramatically to local injections of botulinum toxin. Over 90% of patients with blepharospasm and 70% of patients with cervical dystonia present a satisfactory response to this

  2. Altered sensorimotor activation patterns in idiopathic dystonia-an activation likelihood estimation meta-analysis of functional brain imaging studies

    DEFF Research Database (Denmark)

    Løkkegaard, Annemette; Herz, Damian M; Haagensen, Brian N;

    2016-01-01

    . Further, study size was usually small including different types of dystonia. Here we performed an activation likelihood estimation (ALE) meta-analysis of functional neuroimaging studies in patients with primary dystonia to test for convergence of dystonia-related alterations in task-related activity....... Hum Brain Mapp 37:547-557, 2016. © 2015 Wiley Periodicals, Inc....

  3. Cervical dystonia : Improved treatment response to botulinum toxin after referral to a tertiary centre and the use of polymyography

    NARCIS (Netherlands)

    Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Standaar, T. S. M.; Postma, Marten; Tijssen, M. A. J.

    2013-01-01

    Rationale: Cervical dystonia is the most common form of (primary) dystonia. The first line of treatment for cervical dystonia is intramuscular injections with botulinum toxin. To optimise the response to botulinum toxin proper muscles selection is required. Pre-treatment polymyographic EMG in additi

  4. Limb amputations in fixed dystonia: A form of body integrity identity disorder?

    NARCIS (Netherlands)

    Edwards, M.J.; Alonso-Canovas, A.; Schrag, A.; Bloem, B.R.; Thompson, P.D.; Bhatia, K.

    2011-01-01

    Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputatio

  5. A distinctive pattern of cortical excitability in patients with the syndrome of dystonia and cerebellar ataxia

    NARCIS (Netherlands)

    Talelli, P.; Hoffland, B.S.; Schneider, S.A.; Edwards, M.; Bhatia, K.P.; Warrenburg, B.P.C. van de; Rothwell, J.C.

    2011-01-01

    OBJECTIVE: The syndrome of dystonia and cerebellar ataxia (DYTCA) is a recently described condition where cervical dystonia and mild cerebellar ataxia are the major clinical features. Here we attempted to explore the pathophysiology of this condition by comparing measurements of cortical excitabilit

  6. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

    NARCIS (Netherlands)

    Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Bjoern; Lohnau, Thora; Kasten, Meike; Brueggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmueller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Muenchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine; Groen, Justus

    2013-01-01

    Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. Methods Genome-wide linkage analysis was carried

  7. Identifying Molecular Regulators of Neuronal Functions Affected in the Movement Disorder Dystonia

    Science.gov (United States)

    2015-08-01

    the brain. 15. SUBJECT TERMS DYT1 dystonia, torsinA, neuronal function, neurobiology , calcium, synapse, synaptic transmission 16. SECURITY...VDCC, voltage-dependent Ca 2+ channel; ΔV, membrane depolarization. KEYWORDS DYT1 dystonia, torsinA, neuronal function, neurobiology ...REPORTING REQUIREMENTS Not applicable. APPENDICES The reprints of the published manuscripts are attached as appendices in the following order

  8. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

    NARCIS (Netherlands)

    Pauw, J. De; Velden, K. van der; Meirte, J.; Daele, U. Van; Truijen, S.; Cras, P.; Mercelis, R.; Hertogh, W. de

    2014-01-01

    Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended

  9. Cortical excitability is abnormal in patients with the "fixed dystonia" syndrome.

    NARCIS (Netherlands)

    Avanzino, L.; Martino, D.; Warrenburg, B.P.C. van de; Schneider, S.A.; Abbruzzese, G.; Defazio, G.; Schrag, A.; Bhatia, K.P.; Rothwell, J.C.

    2008-01-01

    A form of fixed dystonia (FD) without evidence of basal ganglia lesions or neurodegeneration has been recently characterized (Schrag et al., Brain 2004;127:2360-2372), which may overlap the clinical spectrum of either complex regional pain syndrome or psychogenic dystonia. Transcranial magnetic stim

  10. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

    NARCIS (Netherlands)

    Pauw, J. De; Velden, K. van der; Meirte, J.; Daele, U. Van; Truijen, S.; Cras, P.; Mercelis, R.; Hertogh, W. de

    2014-01-01

    Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended

  11. Prevalence and diagnostic challenge of dystonia in Thailand: a service-based study in a tertiary university referral centre.

    Science.gov (United States)

    Bhidayasiri, Roongroj; Kaewwilai, Lalita; Wannachai, Natnipa; Brenden, Neil; Truong, Daniel D; Devahastin, Ratanaruedee

    2011-11-01

    Although the subspeciality of movement disorders was established in neurology more than 20 years ago, it is relatively new in Thailand, and while most physicians are generally aware of Parkinson's disease, they often are not familiar with dystonia. As one of the common movement disorders seen in general practice, a number of family and population studies have suggested that as many as two-thirds of patients with dystonia may be underdiagnosed and it is likely that misdiagnosis occurs frequently. Moreover, there is little information on the prevalence of dystonia in Thailand. The purpose of this study was to determine the prevalence and clinical profile of dystonia among Thai patients who came from the southern part of Bangkok, which is in the catchment area of Chulalongkorn University Hospital. In addition, the diagnostic accuracy of dystonia among referred patients was assessed. The medical records of 207 patients were reviewed and it was determined that a large proportion of them (71.9%) had focal dystonia with cervical dystonia being the most common form. Primary dystonia (68.1%) accounted for the majority of the cases. The prevalence of all forms of dystonia, primary dystonia and focal dystonia was 19.9, 13.6 and 14.3 per 100,000 persons, respectively. The diagnostic accuracy of dystonia among referred patients was 85.5%. The most common misdiagnosis was cervical spondylosis, followed by myofascial pain syndrome. Most patients had an average disease duration of 4 years before dystonia was finally diagnosed. Most patients with focal dystonia responded well to botulinum toxin therapy, with 13.3% suffering only mild transient adverse events. In spite of the limitations of this study, this data will initiate a process of increasing both patient and professional awareness of dystonia in Thailand.

  12. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

    Science.gov (United States)

    Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja; Winkler, Susen; Pawlack, Heike; Hagenah, Johann; Brüggemann, Norbert; Zittel, Simone; Fuchs, Tania; Raković, Aleksandar; Schmidt, Alexander; Jabusch, Hans-Christian; Wilcox, Robert; Kostić, Vladimir S; Siebner, Hartwig; Altenmüller, Eckart; Münchau, Alexander; Ozelius, Laurie J; Klein, Christine

    2009-05-01

    DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region. Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia. We screened THAP1 by sequence analysis and quantitative real-time polymerase chain reaction (PCR) in 160 white patients of European ancestry who had dystonia with an early age at onset (n=64), generalised dystonia (n=35), a positive family history of dystonia (n=56), or facial or laryngeal dystonia. Another 160 patients with dystonia were screened for reported and novel variants in THAP1. 280 neurologically healthy controls were screened for the newly identified and previously reported changes in THAP1 and these and an additional 75 controls were screened for a rare non-coding mutation. We identified two mutations in THAP1 (388_389delTC and 474delA), respectively, in two (1%) German patients from the 160 patients with dystonia. Both mutation carriers had laryngeal dystonia that started in childhood and both went on to develop generalised dystonia. Thus, two of three patients with early-onset generalised dystonia with orobulbar involvement had mutations in THAP1. One of the identified patients with DYT6 dystonia had two family members with subtle motor signs who also carried the same mutation. A rare substitution in the 5'untranslated region (-236_235GA-->TT) was found in 20 of 320 patients and in seven of 355 controls (p=0.0054). Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dystonia with spasmodic dysphonia. This combination of symptoms might be a characteristic feature of DYT6 dystonia and could be useful in the differential diagnosis of DYT1, DYT4, DYT12, and DYT17 dystonia. In

  13. Case report: Physical therapy management of axial dystonia.

    Science.gov (United States)

    Voos, Mariana Callil; Oliveira, Tatiana de Paula; Piemonte, Maria Elisa Pimentel; Barbosa, Egberto Reis

    2014-01-01

    Few studies have described physical therapy approaches to provide functional independence and reduce pain in individuals with dystonia. This report describes the physical therapy treatment of a 46-year-old woman diagnosed with idiopathic segmental axial dystonia. For two years, the patient was treated with kinesiotherapy (active and resisted movements and stretching of neck and trunk muscles), abdominal taping (kinesiotaping techniques), functional training, and sensory tricks. She was assessed with parts I, II and III of Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-I, TWSTRS-II and TWSTRS-III), Berg Balance Scale (BBS), Six-Minute Walk Test (6-MWT), and the motor domain of Functional Independence Measure (FIM-motor) before and after the two-year treatment and after the one year follow-up. Postural control and symmetry improved (TWSTRS-I: from 30 to 18), functional independence increased (TWSTRS-II: from 27 to 15; BBS: from 36 to 46; 6-MWT: from 0 to 480 meters (m); FIM-motor: from 59 to 81), and the pain diminished (TWSTRS-III: from 12 to 5). The functional improvement was retained after one year (TWSTRS-I: 14/35; TWRTRS-II: 12/30; TWRTRS-III: 5/20; BBS: 48/56; 6-MWT: 450 m; FIM-motor: 81/91). This program showed efficacy on providing a better control of the dystonic muscles and thus the doses of botulinum toxin needed to treat them could be reduced. Outcomes support the therapeutic strategies used to deal with this type of dystonia.

  14. Biomechanical abnormalities in musicians with occupational cramp/focal dystonia.

    Science.gov (United States)

    Wilson, F R; Wagner, C; Hömberg, V

    1993-01-01

    Occupational factors and peripheral injuries are frequently implicated in the development of hand cramps and the syndrome of persistent manual incoordination among musicians and others most commonly given a diagnosis of focal limb dystonia. In an attempt to gain insight into the character and influence of risk factors in the evolution of this disorder, the authors conducted detailed evaluations of 33 individuals who responded to a questionnaire sent to university- and conservatory-level music schools in Germany in September 1989. Response was invited from any musician with complaints of impaired hand control. Of the 33 individuals accepted for evaluation, 18 were musicians who met clinical criteria for the diagnosis of occupational cramp/focal dystonia (OC/FD). Nineteen of the original 33 subjects underwent a quantitative biochemical assessment, comparing active and passive ranges of motion at all joints below the shoulder with those for cohorts of unimpaired musicians, matched for gender and musical instrument. Of the 19 tested biomechanically, 14 had OC/FD and the remaining five had either persistent pain or nonspecific movement idiosyncracies interfering with playing. Compared with the matched groups of normals, no consistent biomechanical abnormality was found in the non-OC/FD group; in the OC/FD group two thirds had marked limitation of passive and/or active abduction range between the central digits of both hands. Based on detailed training and performance histories in these subjects, the authors conclude that a specific biomechanical condition in the hand can interfere with certain high-speed digital movements required in musical instrument performance. Unintended muscle synergies, postures, and movement patterns can develop as attempts are made to increase the speed and fluency of such movements. As rehearsal is intensified, degraded movements are stabilized ("programmed"). In this situation, OC/FD appears to represent an aberrant outcome of normal motor

  15. Paroxysmal Autonomic Instability with Dystonia after Pneumococcal Meningoencephalitis

    Directory of Open Access Journals (Sweden)

    Layal Safadieh

    2012-01-01

    Full Text Available Streptococcus pneumoniae is a common cause of bacterial meningitis, frequently resulting in severe neurological impairment. A seven-month-old child presenting with Streptococcus pneumoniae meningoencephalitis developed right basal ganglia and hypothalamic infarctions. Daily episodes of agitation, hypertension, tachycardia, diaphoresis, hyperthermia, and decerebrate posturing were observed. The diagnosis of paroxysmal autonomic instability with dystonia was established. The patient responded to clonidine, baclofen, and benzodiazepines. Although this entity has been reported in association with traumatic brain injury, and as a sequel to some nervous system infections, this is the first case, to our knowledge, associated with pneumococcal meningoencephalitis.

  16. Spatial reorganization of putaminal dopamine D2-like receptors in cranial and hand dystonia.

    Science.gov (United States)

    Black, Kevin J; Snyder, Abraham Z; Mink, Jonathan W; Tolia, Veeral N; Revilla, Fredy J; Moerlein, Stephen M; Perlmutter, Joel S

    2014-01-01

    The putamen has a somatotopic organization of neurons identified by correspondence of firing rates with selected body part movements, as well as by complex, but organized, differential cortical projections onto putamen. In isolated focal dystonia, whole putaminal binding of dopamine D2-like receptor radioligands is quantitatively decreased, but it has not been known whether selected parts of the putamen are differentially affected depending upon the body part affected by dystonia. The radioligand [(18)F]spiperone binds predominantly to D2-like receptors in striatum. We hypothesized that the spatial location of [(18)F]spiperone binding within the putamen would differ in patients with dystonia limited to the hand versus the face, and we tested that hypothesis using positron emission tomography and magnetic resonance imaging. To address statistical and methodological concerns, we chose a straightforward but robust image analysis method. An automated algorithm located the peak location of [(18)F]spiperone binding within the striatum, relative to a brain atlas, in each of 14 patients with cranial dystonia and 8 patients with hand dystonia. The mean (left and right) |x|, y, and z coordinates of peak striatal binding for each patient were compared between groups by t test. The location of peak [(18)F]spiperone binding within the putamen differed significantly between groups (cranial dystonia zputamen depending on the body part manifesting dystonia.

  17. Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies.

    Directory of Open Access Journals (Sweden)

    Laura eAvanzino

    2014-12-01

    Full Text Available Dystonia has historically been considered a disorder of the basal ganglia, mainly affecting planning and execution of voluntary movements. This notion comes from the observation that most lesions responsible for secondary dystonia involve the basal ganglia. However, what emerges from recent research is that dystonia is linked to the dysfunction of a complex neural network that comprises basal ganglia-thalamic-frontal cortex, but also the inferior parietal cortex and the cerebellum. While dystonia is clearly a motor problem, it turned out that sensory aspects are also fundamental, especially those related to proprioception.We outline experimental evidence for proprioceptive dysfunction in focal dystonia from intrinsic sensory abnormalities to impaired sensorimotor integration, that is the process by which sensory information is used to plan and execute volitional movements. Particularly, we will focus on proprioceptive aspects of dystonia, including: i processing of vibratory input, ii temporal discrimination of two passive movements, iii multimodal integration of visual-tactile and proprioceptive inputs and, iv motor control in the absence of visual feedback. We suggest that these investigations contribute not only to a better understanding of dystonia pathophysiology, but also to develop rehabilitation strategies aimed at facilitating the processing of proprioceptive input.

  18. Childhood onset generalised dystonia can be modelled by increased gain in the indirect basal ganglia pathway.

    Science.gov (United States)

    Sanger, T D

    2003-11-01

    Clinical experience suggests an important role of the indirect basal ganglia pathway in the genesis of childhood onset generalised dystonia, but it has been difficult to reconcile the increased muscle activity in dystonia with the current model of basal ganglia function in which the indirect pathway is considered primarily inhibitory. The aim of this study was to present a modification of the direct-indirect pathway model, in which the indirect pathway is inverting rather than purely inhibitory, so that while high signals are inhibited, low signals are amplified. As the basal ganglia may be a feedback loop that modifies cortical activity, instability from excessive gain in this feedback loop could explain features of dystonia. A detailed mathematical model is provided, together with simulations of cortical cell population spiking behaviour when connected through a basal ganglia loop. The simulations show that increased gain in the indirect pathway relative to the direct pathway can lead to unstable uncontrolled synchronous oscillations in cortex and basal ganglia. This behaviour could result in dystonia. The model provides a consistent explanation for the association of dystonia with parkinsonism and disorders characterised by dopamine depletion, the ability to treat some dystonias with dopamine, the ability of neuroleptic drug treatment to cause an acute dystonic reaction treatable with anticholinergic drugs, and the ability of pallidotomy or deep brain stimulation of the internal pallidum to alleviate symptoms of generalised dystonia.

  19. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

    Directory of Open Access Journals (Sweden)

    Mohammad Javad Saeedi Borujeni

    2017-01-01

    Full Text Available Introduction:Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report:In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.  Conclusion:In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.

  20. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

    Science.gov (United States)

    Saeedi Borujeni, Mohammad Javad; Esfandiary, Ebrahim; Almasi-Dooghaee, Mostafa

    2017-01-01

    Introduction: Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report: In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy. Conclusion: In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child. PMID:28229063

  1. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  2. Noninvasive brain stimulation for Parkinson's disease and dystonia.

    Science.gov (United States)

    Wu, Allan D; Fregni, Felipe; Simon, David K; Deblieck, Choi; Pascual-Leone, Alvaro

    2008-04-01

    Repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) are promising noninvasive cortical stimulation methods for adjunctive treatment of movement disorders. They avoid surgical risks and provide theoretical advantages of specific neural circuit neuromodulation. Neuromodulatory effects depend on extrinsic stimulation factors (cortical target, frequency, intensity, duration, number of sessions), intrinsic patient factors (disease process, individual variability and symptoms, state of medication treatment), and outcome measures. Most studies to date have shown beneficial effects of rTMS or tDCS on clinical symptoms in Parkinson's disease (PD) and support the notion of spatial specificity to the effects on motor and nonmotor symptoms. Stimulation parameters have varied widely, however, and some studies are poorly controlled. Studies of rTMS or tDCS in dystonia have provided abundant data on physiology, but few on clinical effects. Multiple mechanisms likely contribute to the clinical effects of rTMS and tDCS in movement disorders, including normalization of cortical excitability, rebalancing of distributed neural network activity, and induction of dopamine release. It remains unclear how to individually adjust rTMS or tDCS factors for the most beneficial effects on symptoms of PD or dystonia. Nonetheless, the noninvasive nature, minimal side effects, positive effects in preliminary clinical studies, and increasing evidence for rational mechanisms make rTMS and tDCS attractive for ongoing investigation.

  3. Abnormal sensorimotor processing in pianists with focal dystonia.

    Science.gov (United States)

    Lim, Vanessa K; Bradshaw, John L; Nicholls, Michael E; Altenmüller, Eckart

    2004-01-01

    Focal dystonia is a task-specific sensorimotor disorder that is characterized by sustained muscle contractions, which may cause twisting, repetitive movements, or abnormal postures. In the current study, the contingent negative variation was recorded in a group of professional pianists with focal dystonia (musicians' cramp) and compared to pianist controls. The CNV is composed of an early stimulus processing component and a later response preparation component. The CNV can be elicited in tasks that require movement and nonmovement. A subtractive analysis with a nonmovement condition was used to minimize effects of the CNV not related to response preparation. The current results revealed no group differences for the early CNV (processing of stimulus properties). In contrast, a significant group difference was found in the late CNV (movement preparation) between patients and controls, with the patients showing significantly higher activation prior to movement. The current study demonstrates an increase in overall sensorimotor activity prior to movement in patients with musicians' cramp. This overexcitation of the cortex may be the result of a dysfunction in the globus pallidus, resulting in a lack of inhibition and/or an increase in excitation.

  4. Normalizing motor cortex representations in focal hand dystonia.

    Science.gov (United States)

    Schabrun, Siobhan M; Stinear, Cathy M; Byblow, Winston D; Ridding, Michael C

    2009-09-01

    Task-specific focal dystonia is thought to have a neurological basis where stereotypical synchronous inputs and maladaptive plasticity play a role. As afferent input is a powerful driver of cortical reorganization, we propose that a period of asynchronous afferent stimulation may reverse maladaptive cortical changes and alleviate symptoms. Using transcranial magnetic stimulation (TMS), 3 hand muscles were mapped in 10 dystonics and 10 healthy controls. Mapping occurred before and after 1 h of nonassociative stimulation (NAS) to first dorsal interosseous (FDI) and abductor pollicis brevis (APB). Participants performed grip lift, handwriting, and cyclic drawing before and after NAS. Prior to NAS, dystonics had larger maps, and the centers of gravity (CoGs) of the FDI and APB maps were closer together. Dystonics demonstrated impairments in grip-lift, handwriting, and cyclic drawing tasks. Following NAS, map size was reduced in all muscles in dystonic participants and FDI and APB CoGs moved further apart. Among dystonics, NAS produced a reduction in movement variability during cyclic drawing. Thus, 1 h of NAS can reduce the magnitude, and increase the separation, of TMS representational maps. We suggest that these changes reflect some normalization of the representational abnormalities seen in focal dystonia and provide initial, limited evidence that such changes are associated with improvements in circle drawing.

  5. Task-specific focal dystonia - Genetics Home Reference [Genetics Home Reference (Conditions)

    Lifescience Database Archive (English)

    Full Text Available of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias ...that occur while playing a musical instrument. This condition can affect amateur or professional musicians, ...and the location of the dystonia depends on the instrument. Some musicians (such as piano, guitar, and violi...ly painless, although they can cause anxiety when they interfere with musical performance and other activiti...opulation. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of music

  6. [Questionnaire survey of musician's dystonia among students of a music college].

    Science.gov (United States)

    Konaka, Kuni; Mochizuki, Hideki

    2015-01-01

    Musician's dystonia is known as a task specific dystonia. Though it is thought to occur during a long course of repetitive performance, the actual circumstances that precipitate this condition are not clear. According to factual reports this disease is not commonly known, probably because many of these patients may not have been visiting a hospital. We prepared a questionnaire and did a survey among the students of a music college. This is the first questionnaire survey aimed at finding out the prevalence of musician's dystonia among the students of music. Among the 480 participants of this survey, 29% of the students had knowledge of this disorder and 1.25% of the students had dystonia while performing music.

  7. Complex regional pain syndrome with associated chest wall dystonia: a case report

    Directory of Open Access Journals (Sweden)

    Schwartzman Robert J

    2011-09-01

    Full Text Available Abstract Patients with complex regional pain syndrome (CRPS often suffer from an array of associated movement disorders, including dystonia of an affected limb. We present a case of a patient with long standing CRPS after a brachial plexus injury, who after displaying several features of the movement disorder previously, developed painful dystonia of chest wall musculature. Detailed neurologic examination found palpable sustained contractions of the pectoral and intercostal muscles in addition to surface allodynia. Needle electromyography of the intercostal and paraspinal muscles supported the diagnosis of dystonia. In addition, pulmonary function testing showed both restrictive and obstructive features in the absence of a clear cardiopulmonary etiology. Treatment was initiated with intrathecal baclofen and the patient had symptomatic relief and improvement of dystonia. This case illustrates a novel form of the movement disorder associated with CRPS with response to intrathecal baclofen treatment.

  8. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

    DEFF Research Database (Denmark)

    Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

    2015-01-01

    INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome...

  9. DYT1 MUTATIONS AMONGST EARLY ONSET PRIMARY DYSTONIA PATIENTS IN CHINA

    Institute of Scientific and Technical Information of China (English)

    Jing-fang Yang; Jian-yu Li; Yong-jie Li; Tao Wu; Yan-li Zhang; Biao Chen

    2008-01-01

    Objective To investigate the frequency of GAG deletion in the DYTI gene among early onset primary dystonia patients in China. Mothods Thirteen patients with early onset primary torsion dystonia were screened for mutation in exon 5 of the DYT1 gene using denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing, and the results were confirmed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Resuits The GAG deletion mutation which results in Glu302del in exon 5 of the DYTI gene was found in 5 pa-tients. The detecting results were consistent between with DHPLC and PCR-RFLP. We did not fred any other mutations in the DYT1 gene.Conclusions The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia pa-tients in China. The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.

  10. Integration of Osteopathic Manual Treatments in Management of Cervical Dystonia with Tremor: A Case Series

    Science.gov (United States)

    Halimi, Miriam; Leder, Adena; Mancini, Jayme D.

    2017-01-01

    Background Cervical dystonia, also known as spasmodic torticollis, is a chronic disorder in which patients exhibit involuntary repetitive contractions of neck muscles resulting in abnormal postures or movements. Occasionally, there is also a dystonic head tremor. The underlying mechanisms for cervical dystonia and dystonic tremor are not clear, and treatments are limited. Case Report In the present cases, two females with head tremor starting in adolescence developed worsening symptoms of cervical dystonia with dystonic tremor in their 60s. On osteopathic physical examination, both had a vertical type strain to the sphenobasilar synchondrosis. Discussion Vertical strains are more frequently found in patients after head trauma, congenital or later in life, than in healthy patients, and head trauma may have been a precipitating factor in these patients. There were improvements in cervical dystonia symptoms, including tremor, in both patients after osteopathic manual treatment. PMID:28119789

  11. Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia

    NARCIS (Netherlands)

    Zittel, S.; Helmich, R.C.G.; Demiralay, C.; Munchau, A.; Baumer, T.

    2015-01-01

    Previous studies indicated that sensorimotor integration and plasticity of the sensorimotor system are impaired in dystonia patients. We investigated motor evoked potential amplitudes and short latency afferent inhibition to examine corticospinal excitability and cortical sensorimotor integration,

  12. Non-motor symptoms in genetically defined dystonia : Homogenous groups require systematic assessment

    NARCIS (Netherlands)

    Peall, K. J.; Kuiper, A.; de Koning, T. J.; Tijssen, M. A. J.

    2015-01-01

    Introduction: Dystonia is a movement disorder involving sustained or intermittent muscle contractions resulting in abnormal movements and postures. Identification of disease causing genes has allowed examination of genetically homogenous groups. Unlike the motor symptoms, non-motor characteristics a

  13. Dystonia in neurodegeneration with brain iron accumulation : outcome of bilateral pallidal stimulation

    NARCIS (Netherlands)

    Timmermann, L.; Pauls, K. A. M.; Wieland, K.; Jech, R.; Kurlemann, G.; Sharma, N.; Gill, S. S.; Haenggeli, C. A.; Hayflick, S. J.; Hogarth, P.; Leenders, K. L.; Limousin, P.; Malanga, C. J.; Moro, E.; Ostrem, J. L.; Revilla, F. J.; Santens, P.; Schnitzler, A.; Tisch, S.; Valldeoriola, F.; Vesper, J.; Volkmann, J.; Woitalla, D.; Peker, S.

    Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty

  14. Levodopa-Induced Facial Dystonia in a Case of Progressive Supranuclear Palsy

    Directory of Open Access Journals (Sweden)

    Eun Joo Chung

    2012-05-01

    Full Text Available Progressive supranuclear palsy (PSP is frequently misdiagnosed as other Parkinsonism because of clinical heterogeneity of PSP. We present here a case of a 67-year-old male patient with frontotemporal dementia-like cognitive impairment including language difficulties and abnormal behaviors. He showed severe facial dystonia after the levodopa treatment. Herein, we describe an unusual case of a patient presenting with PSP which, we believe could contribute to our knowledge about atypical leveodopa-induced facial dystonia in PSP.

  15. Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia.

    Directory of Open Access Journals (Sweden)

    Hye Ran Park

    Full Text Available GPi (Internal globus pallidus DBS (deep brain stimulation is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia.This report describes the long-term clinical outcome of 36 patients implanted with GPi DBS at the Neurosurgery Department of Seoul National University Hospital.Nine patients with a known genetic cause, 12 patients with acquired dystonia, and 15 patients with isolated dystonia without a known genetic cause were included. When categorized by phenomenology, 29 patients had generalized, 5 patients had segmental, and 2 patients had multifocal dystonia. Patients were assessed preoperatively and at defined follow-up examinations postoperatively, using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS for movement and functional disability assessment. The mean follow-up duration was 47 months (range, 12-84.The mean movement scores significantly decreased from 44.88 points preoperatively to 26.45 points at 60-month follow up (N = 19, P = 0.006. The mean disability score was also decreased over time, from 11.54 points preoperatively to 8.26 points at 60-month follow up, despite no statistical significance (N = 19, P = 0.073. When analyzed the movement and disability improvement rates at 12-month follow up point, no significant difference was noted according to etiology, disease duration, age at surgery, age of onset, and phenomenology. However, the patients with DYT-1 dystonia and isolated dystonia without a known genetic cause showed marked improvement.GPi DBS is a safe and efficient therapeutic method for treatment of dystonia patients to improve both movement and disability. However, this study has some limitations caused by the retrospective design with small sample size in a single-center.

  16. Sleep in patients with dystonia : a systematic review on the state of research and perspectives

    OpenAIRE

    2015-01-01

    Patients with primary dystonia, the third most prevalent movement disorder, suffer from a markedly reduced quality of life. This might, at least in part, be mediated by non-motor symptoms, including sleep disturbances. Characterising and treating sleep disturbances might provide new inroads to improve relevant patient-centred outcomes. This review evaluates the state of research on sleep in patients with dystonia and outlines an agenda for future research. A literature search was performed in...

  17. Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm.

    Science.gov (United States)

    Karp, Barbara Illowsky; Alter, Katharine

    2016-02-01

    Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on one side of the face. In this article, the clinical presentation, epidemiology, and approaches to treatment are reviewed. Technical aspects of using botulinum toxin for treatment and reported outcomes are discussed.

  18. Dystonia and tremor following exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin

    Energy Technology Data Exchange (ETDEWEB)

    Klawans, H.L.

    1987-01-01

    Forty-seven railroad workers who were exposed to polychlorinated phenols, including dioxin (TCDD), during 1979 while cleaning up the chemical spillage following damage to a tank car filled with these chemicals were followed medically for the subsequent 6 years. Two committed suicide. The initial neurological complaints included a sense of fatigue and muscle aching, both of which have been reported in other individuals following dioxin exposure. On detailed neurological examination in December, 1985, 24 of 45 had dystonic writer's cramp and/or other action dystonias of the hands. None of the involved individuals had a family history of dystonia, and all 24 dated the onset of the dystonia to the first 2 to 3 years subsequent to their toxic exposure. The dystonias varied in severity but were usually mild. No other types of dystonic involvement were recognized. Thirty-five of the 45 individuals also manifested postural and terminal intention tremor which resembled benign essential tremor. None of the involved individuals had a family history of tremor, and all 35 of those affected dated the onset of the tremor to some time subsequent to their toxic exposure. Forty-three of 45 patients had histories and findings suggestive of peripheral neuropathy. This is the first report relating any type of dystonia to prior dioxin exposure and the first report relating action dystonia, such as dystonic writer's cramp, and postural/terminal intention tremor, to toxic exposure of any type.

  19. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.

    Science.gov (United States)

    Yang, Jing-Fang; Wu, Tao; Li, Jian-Yu; Li, Yong-Jie; Zhang, Yan-Li; Chan, Piu

    2009-01-30

    Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we assumed that mutations in the DYT1 gene might have the same role in cases of early onset primary torsion dystonia (EOPTD) and early onset Parkinson disease (EOPD) that present dystonia. In this present study, 17 patients with EOPTD, 221 patients with EOPD and 164 control subjects were screened for mutations of the DYT1 gene by denaturing high performance liquid chromatography (DHPLC), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing. Our results showed that the GAG deletion was identified in 7 EOPTD patients, which results in Glu302del of DYT1 gene. No mutations were found in EOPD patients and control subjects. By carefully reviewing the available literature on studies of sporadic, non-Ashkenazi Jewish populations, the results showed that the prevalence rate of DYT1 mutation was not significantly different (p=0.267) between European (27.3%) and Asian (22.2%) patients with early onset primary torsion dystonia.

  20. The common marmoset (Callithrix jacchus) as a model for neuroleptic-induced acute dystonia.

    Science.gov (United States)

    Fukuoka, T; Nakano, M; Kohda, A; Okuno, Y; Matsuo, M

    1997-12-01

    To examine whether acute dystonia is induced by neuroleptic treatment, common marmosets were treated with haloperidol orally twice a week over 25 weeks until dystonic behavior was elicited. Movement disorders such as acute dystonia were observed 6 weeks after the initial treatment, and had appeared in all treated animals by 25 weeks. Once these movement disorders were induced, they consistently reappeared after further treatment with haloperidol, and once haloperidol dosing was discontinued, the episodes vanished. Then, various neuroleptic drugs (bromperidol, chlorpromazine, risperidone thioridazine, sulpiride, tiapride, and clozapine) or a nonneuroleptic drug (diazepam) were administered orally instead of haloperidol in the above animals. All the neuroleptic drugs except for clozapine elicited similar abnormal behavior, while diazepam failed to induce any dystonia. An anticholinergic drug, trihexyphenidyl, which is known to reduce acute dystonia in patients, was also given orally to the above haloperidol-sensitized animals, followed by further treatment with haloperidol 30 min later. This clearly suppressed the induction of dystonia by haloperidol. The similarity between these findings for haloperidol-pretreated common marmosets and clinical findings suggests that the present model is useful for predicting the potential of antipsychotics to induce acute dystonia in humans.

  1. Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2.

    Science.gov (United States)

    Harries, Anwen M; Sandhu, Mandeep; Spacey, Sian D; Aly, Mohamed M; Honey, Christopher R

    2013-01-01

    This paper describes the use of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in the treatment of secondary dystonia caused by expisodic ataxia type 2 (EA2). We present the case of a patient with EA2, an autosomal dominant condition, who developed late-onset cervical and right upper limb segmental dystonia. The patient underwent left GPi DBS. Within 4 months of commencing stimulation of the left GPi, the patient had resolution of his neck pain and was able to keep the head straighter for longer time intervals. There was also improvement in right arm segmental dystonia. There was an improvement in the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS 21.5) of 55% at 4 months and of 51% at 22 months. The treatment of secondary dystonia is difficult and the results with GPi DBS are less favourable compared with primary dystonia. This case illustrates the successful treatment of secondary dystonia caused by EA2. Copyright © 2013 S. Karger AG, Basel.

  2. Botulinum neurotoxins for the treatment of focal dystonias: Review of rating tools used in clinical trials.

    Science.gov (United States)

    Del Sorbo, Francesca; Albanese, Alberto

    2015-12-01

    Botulinum neurotoxins (BoNTs) are used to achieve therapeutic benefit in focal dystonia. An expert panel recently reviewed published evidence on the efficacy of BoNTs for the treatment of focal dystonias and produced recommendations for clinical practice. Another panel reviewed the clinimetric properties of rating scales for dystonia and produced recommendations for current usage and future directions. Considering that the strength of evidence derives not only from the quality of the study design, but also from usage of validated outcome measures, we combined the information provided by these two recent reviews and assessed the appropriateness of the rating instruments used in clinical trials on BoNT treatment in focal dystonia. Data sources included all the publications on BoNT treatment for focal dystonias reviewed by the recent evidence-based analysis. We reviewed all rating instruments used to assess primary and secondary outcome following BoNT treatment. The publications were allocated into five topics according to the focal dystonia type reviewed in the meta-analysis: blepharospasm, oromandibular dystonia, cervical dystonia, upper limb dystonia, and laryngeal dystonia. For each topic, papers were divided, according to the terminology used in the meta-analysis, into placebo-controlled, active comparator and methodological or uncontrolled. For each topic we identified the rating tools used in each study class and annotated which were the mostly used in each focal dystonia type. Outcome measures included tools related to motor and non-motor features, such as pain and depression, and functional as well as health-related quality of life features. Patient- and investigator-reported outcomes were also included. Rating instruments were classified as recommended, suggested, listed or not included, based on recommendations produced by the rating scale task force. Both primary and secondary outcome measures were assessed. As a final step we compared current practice, as

  3. The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.

    Science.gov (United States)

    Sako, Wataru; Fujita, Koji; Vo, An; Rucker, Janet C; Rizzo, John-Ross; Niethammer, Martin; Carbon, Maren; Bressman, Susan B; Uluğ, Aziz M; Eidelberg, David

    2015-12-01

    Although primary dystonia is defined by its characteristic motor manifestations, non-motor signs and symptoms have increasingly been recognized in this disorder. Recent neuroimaging studies have related the motor features of primary dystonia to connectivity changes in cerebello-thalamo-cortical pathways. It is not known, however, whether the non-motor manifestations of the disorder are associated with similar circuit abnormalities. To explore this possibility, we used functional magnetic resonance imaging to study primary dystonia and healthy volunteer subjects while they performed a motion perception task in which elliptical target trajectories were visually tracked on a computer screen. Prior functional magnetic resonance imaging studies of healthy subjects performing this task have revealed selective activation of motor regions during the perception of 'natural' versus 'unnatural' motion (defined respectively as trajectories with kinematic properties that either comply with or violate the two-thirds power law of motion). Several regions with significant connectivity changes in primary dystonia were situated in proximity to normal motion perception pathways, suggesting that abnormalities of these circuits may also be present in this disorder. To determine whether activation responses to natural versus unnatural motion in primary dystonia differ from normal, we used functional magnetic resonance imaging to study 10 DYT1 dystonia and 10 healthy control subjects at rest and during the perception of 'natural' and 'unnatural' motion. Both groups exhibited significant activation changes across perceptual conditions in the cerebellum, pons, and subthalamic nucleus. The two groups differed, however, in their responses to 'natural' versus 'unnatural' motion in these regions. In healthy subjects, regional activation was greater during the perception of natural (versus unnatural) motion (P perception of unnatural (versus natural) motion (P perception is disrupted in DYT1

  4. Basal ganglia modulation of thalamocortical relay in Parkinson’s disease and dystonia

    Directory of Open Access Journals (Sweden)

    Yixin eGuo

    2013-09-01

    Full Text Available Basal ganglia dysfunction has being implied in both Parkinson's disease and dystonia. While these disorders probably involve different cellular and circuit pathologies within and beyond basal ganglia, there may be some shared neurophysiological pathways. For example, pallidotomy and pallidal Deep Brain Stimulation (DBS are used in symptomatic treatment of both disorders. Both conditions are marked by alterations of rhythmicity of neural activity throughout basal ganglia-thalamocortical circuits. Increased synchronized oscillatory activity in beta band is characteristic of Parkinson’s disease, while different frequency bands, theta and alpha, are involved in dystonia. We compare the effect of the activity of GPi, the output nuclei of the basal ganglia, on the information processing in the downstream neural circuits of thalamus in Parkinson’s disease and dystonia. We use a data-driven computational approach, a computational model of the thalamocortical (TC cell modulated by experimentally recorded data, to study the differences and similarities of thalamic dynamics in dystonia and Parkinson's disease. Our analysis shows no substantial differences in TC relay between the two conditions. Our results suggest that, similar to Parkinson’s disease, a disruption of thalamic processing could also be involved in dystonia. Moreover, the degree to which TC relay fidelity is impaired is approximately the same in both conditions. While Parkinson’s disease and dystonia may have different pathologies and differ in the oscillatory content of neural discharge, our results suggest that the effect of patterning of pallidal discharge is similar in both conditions. Furthermore, these results suggest that the mechanisms of GPi DBS in dystonia maybe involve improvement of TC relay fidelity.

  5. Basal ganglia modulation of thalamocortical relay in Parkinson's disease and dystonia.

    Science.gov (United States)

    Guo, Yixin; Park, Choongseok; Worth, Robert M; Rubchinsky, Leonid L

    2013-01-01

    Basal ganglia dysfunction has being implied in both Parkinson's disease and dystonia. While these disorders probably involve different cellular and circuit pathologies within and beyond basal ganglia, there may be some shared neurophysiological pathways. For example, pallidotomy and pallidal Deep Brain Stimulation (DBS) are used in symptomatic treatment of both disorders. Both conditions are marked by alterations of rhythmicity of neural activity throughout basal ganglia-thalamocortical circuits. Increased synchronized oscillatory activity in beta band is characteristic of Parkinson's disease, while different frequency bands, theta and alpha, are involved in dystonia. We compare the effect of the activity of GPi, the output nuclei of the basal ganglia, on information processing in the downstream neural circuits of thalamus in Parkinson's disease and dystonia. We use a data-driven computational approach, a computational model of the thalamocortical (TC) cell modulated by experimentally recorded data, to study the differences and similarities of thalamic dynamics in dystonia and Parkinson's disease. Our analysis shows no substantial differences in TC relay between the two conditions. Our results suggest that, similar to Parkinson's disease, a disruption of thalamic processing could also be involved in dystonia. Moreover, the degree to which TC relay fidelity is impaired is approximately the same in both conditions. While Parkinson's disease and dystonia may have different pathologies and differ in the oscillatory content of neural discharge, our results suggest that the effect of patterning of pallidal discharge is similar in both conditions. Furthermore, these results suggest that the mechanisms of GPi DBS in dystonia may involve improvement of TC relay fidelity.

  6. Pallidal stimulation for segmental dystonia: long term follow up of 11 consecutive patients.

    Science.gov (United States)

    Sensi, Mariachiara; Cavallo, Michele A; Quatrale, Rocco; Sarubbo, Silvio; Biguzzi, Sara; Lettieri, Cristian; Capone, Jay G; Tugnoli, Valeria; Tola, Maria Rosaria; Eleopra, Roberto

    2009-09-15

    Pallidal stimulation is a convincing and valid alternative for primary generalized dystonia refractory to medical therapy or botulinum toxin. However, the clinical outcome reported in literature is variable most likely because of heterogeneity DBS techniques employed and /or to clinical dystonic pattern of the patients who undergo surgery. In this study, we report the long term follow up of a homogeneous group of eleven subjects affected by segmental dystonia who were treated with bilateral stimulation of the Globus Pallidus pars interna (GPi) from the years 2000 to 2008. All the patients were evaluated, before surgery and at 6-12-24-36 months after the treatment, in accordance with the Burke Fahn Marsden Dystonia Rating Scale (BFMDRS). Our study indicates that DBS promotes an early and significant improvement at 6 months with an even and a better outcome later on. The analysis of specific sub items of the BFMDRS revealed an earlier and striking benefit not only as far as segmental motor function of the limbs but also for the complex cranial functions like face, (eyes and mouth), speech and swallowing, differently from results reported in primary generalized dystonia. Deep Brain Stimulation of GPi should be considered a valid indication for both generalized and segmental dystonia when other therapies appear ineffective.

  7. Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

    Science.gov (United States)

    van Karnebeek, Clara; Horvath, Gabriella; Murphy, Tyler; Purtzki, Jacqueline; Bowden, Kristin; Sirrs, Sandra; Honey, Christopher R; Stockler, Sylvia

    2015-01-01

    Deep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in a 22-year-old male with X-linked adrenoleukodystrophy (X-ALD). The disease manifested at age 6 with ADHD, tics, and dystonic gait, and deteriorated to loss of ambulation by age 11, and speech difficulties, seizures, and characteristic adrenal insufficiency by age 16. DBS in the globus pallidus internus was commenced at age 18. However, after 25 months, no improvement in dystonia was observed (Burke-Fahn-Marsden (BFM) scores of 65.5 and 62 and disability scores of 28 and 26, pre- and post-DBS, respectively) and the DBS device was removed. Treatment with dantrolene reduced skeletal muscle tone and improved movement (Global Dystonia Rating Scores from 5 to 1 and BFM score 42). Therefore, we conclude that DBS was a safe but ineffective intervention in our case with long-standing dystonia, whereas treatment of spasticity with dantrolene did improve the movement disorder in this young man with X-ALD.

  8. Evidence for altered basal ganglia-brainstem connections in cervical dystonia.

    Directory of Open Access Journals (Sweden)

    Anne J Blood

    Full Text Available BACKGROUND: There has been increasing interest in the interaction of the basal ganglia with the cerebellum and the brainstem in motor control and movement disorders. In addition, it has been suggested that these subcortical connections with the basal ganglia may help to coordinate a network of regions involved in mediating posture and stabilization. While studies in animal models support a role for this circuitry in the pathophysiology of the movement disorder dystonia, thus far, there is only indirect evidence for this in humans with dystonia. METHODOLOGY/PRINCIPAL FINDINGS: In the current study we investigated probabilistic diffusion tractography in DYT1-negative patients with cervical dystonia and matched healthy control subjects, with the goal of showing that patients exhibit altered microstructure in the connectivity between the pallidum and brainstem. The brainstem regions investigated included nuclei that are known to exhibit strong connections with the cerebellum. We observed large clusters of tractography differences in patients relative to healthy controls, between the pallidum and the brainstem. Tractography was decreased in the left hemisphere and increased in the right hemisphere in patients, suggesting a potential basis for the left/right white matter asymmetry we previously observed in focal dystonia patients. CONCLUSIONS/SIGNIFICANCE: These findings support the hypothesis that connections between the basal ganglia and brainstem play a role in the pathophysiology of dystonia.

  9. Finger-specific loss of independent control of movements in musicians with focal dystonia.

    Science.gov (United States)

    Furuya, S; Altenmüller, E

    2013-09-01

    The loss of independent control of finger movements impairs the dexterous use of the hand. Focal hand dystonia is characterised by abnormal structural and functional changes at the cortical and subcortical regions responsible for individuated finger movements and by the loss of surround inhibition in the finger muscles. However, little is known about the pathophysiological impact of focal dystonia on the independent control of finger movements. Here we addressed this issue by asking pianists with and without focal dystonia to repetitively strike a piano key with one of the four fingers as fast as possible while the remaining digits kept the adjacent keys depressed. Using principal component analysis and cluster analysis to the derived keystroke data, we successfully classified pianists according to the presence or absence of dystonic symptoms with classification rates and cross-validation scores of approximately 90%. This confirmed the effects of focal dystonia on the individuated finger movements. Interestingly, the movement features that contributed to successful classification differed across fingers. Compared to healthy pianists, pianists with an affected index finger were characterised predominantly by stronger keystrokes, whereas pianists with affected middle or ring fingers exhibited abnormal temporal control of the keystrokes, such as slowness and rhythmic inconsistency. The selective alternation of the movement features indicates a finger-specific loss of the independent control of finger movements in focal dystonia of musicians.

  10. The Mechanisms of Movement Control and Time Estimation in Cervical Dystonia Patients

    Directory of Open Access Journals (Sweden)

    Pavel Filip

    2013-01-01

    Full Text Available Traditionally, the pathophysiology of cervical dystonia has been regarded mainly in relation to neurochemical abnormities in the basal ganglia. Recently, however, substantial evidence has emerged for cerebellar involvement. While the absence of neurological “cerebellar signs” in most dystonia patients may be considered at least provoking, there are more subtle indications of cerebellar dysfunction in complex, demanding tasks. Specifically, given the role of the cerebellum in the neural representation of time, in the millisecond range, dysfunction to this structure is considered to be of greater importance than dysfunction of the basal ganglia. In the current study, we investigated the performance of cervical dystonia patients on a computer task known to engage the cerebellum, namely, the interception of a moving target with changing parameters (speed, acceleration, and angle with a simple response (pushing a button. The cervical dystonia patients achieved significantly worse results than a sample of healthy controls. Our results suggest that the cervical dystonia patients are impaired at integrating incoming visual information with motor responses during the prediction of upcoming actions, an impairment we interpret as evidence of cerebellar dysfunction.

  11. An aggressive approach to limb dystonia: a case report.

    Science.gov (United States)

    Moberg-Wolff, E A

    1998-05-01

    A 15-year-old boy presented with a severe fluctuating foot and ankle dystonia resulting from a basal ganglia insult at the age of 4. This followed an embolic event related to an undiagnosed prolapsed mitral valve. Functionally, the patient was ambulatory with rocker bottom crutches and an ankle-foot orthosis, but there were periods of up to a year when pain and increased dystonic deformity required him to use a wheelchair. A new orthotic was made nearly every month because the orthotist could find no material that would withstand his tone without breaking, yet he could not ambulate without one. Multiple interventions, including biofeedback, contrast baths, stretching and strengthening, oral lioresal (Baclofen), diazepam (Valium), benztropine mesylate (Cogentin), carbidopa-levodopa (Sinemet), carbamazepine (Tegretol), and injections of botulism toxin (BOTOX) were tried, all with minimal effects. Amputation was recommended, based on anatomic and functional considerations. The patient and his family adjusted well to this decision, although not all orthopedists and therapists adjusted easily to the choice. The patient is now functionally independent with a prosthesis and has a normal teenage lifestyle for the first time.

  12. A psychogenic dystonia perfect responsive to antidepressant treatment.

    Directory of Open Access Journals (Sweden)

    Volkan Solmaz

    2014-03-01

    Full Text Available After ruling out of organic causes, movement disorders are named as psychogenic movement disorders, it can mimic perfectly Organic movement disorders, but with a good history, clinical observations and detailed examination is very helpful in the diagnosis of this disease. In here we will present a 15 years old male patient, he was complaining of urinary incontinence at night, emerging dystonic posture especially in crowded environments, eating, and during activities that require attention, for 5 years. Self and family history was unremarkable. His physical and neurological examination was normal except for dystonic posture esipecially writing and when doing skilled jobs. All the tests were normal for the differential diagnosis. Taking into account the patient\\s clinical findings and cilinical test, the patient was diagnosed as psychogenic dystonia. He gave a very good response to treatment with antidepressants and psychotherapy. As a result, in clinical practice both the diagnostic and therapeutic challenges the psychogenic movement disorders is an important problem, and to get rid of the negative effects of unnecessary diagnostic test and side efects of treatment, you need to keep in mind this diagnosis. [J Contemp Med 2014; 4(1.000: 29-31

  13. Acute Dystonia in a Child Receiving Metoclopramide: Case Report

    Directory of Open Access Journals (Sweden)

    Alaaddin Yorulmaz

    2016-11-01

    Full Text Available Metoclopramide is a benzamide that is a dopamine receptor, often preferred as a prokinetic agent to accelerate gastrointestinal passage in the treatment of gastroesophageal reflux disease; itis also used as an antiemetic agent in many diseases that progress with nausea-vomiting. It is effective on the digestive system both centrally and peripherally. It easily overcomes the blood-brain barrier and may create side effects pertaining to the extrapyramidal system. Acute dystonic reaction is rare among these side effects; it is, however, a condition that needs to be treated urgently. This paper presents a 5-month-old infant patient who developed acute dystonic reaction secondary to the use of Metpamid at a high dose. The diagnosis in this case was made based onpatient history. The patient%u2019s symptoms rapidly disappeared thanks to treatment with diphenhydramine. It should be remembered that metoclopramide may cause side effects in patients presenting to the emergency service with acute dystonia, soa complete history of drugs should definitely be taken for such patients.

  14. Comparing endophenotypes in adult-onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, David

    2012-02-01

    Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.

  15. Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers.

    Science.gov (United States)

    Wang, Doris D; de Hemptinne, Coralie; Miocinovic, Svjetlana; Qasim, Salman E; Miller, Andrew M; Ostrem, Jill L; Galifianakis, Nicholas B; San Luciano, Marta; Starr, Philip A

    2016-05-01

    Local field potentials (LFP) recorded from the subthalamic nucleus in patients with Parkinson's disease (PD) demonstrate prominent oscillations in the beta (13-30 Hz) frequency range, and reduction of beta band spectral power by levodopa and deep brain stimulation (DBS) is correlated with motor symptom improvement. Several features of beta activity have been theorized to be specific biomarkers of the parkinsonian state, though these have rarely been studied in non-parkinsonian conditions. To compare resting state LFP features in PD and isolated dystonia and evaluate disease-specific biomarkers, we recorded subthalamic LFPs from 28 akinetic-rigid PD and 12 isolated dystonia patients during awake DBS implantation. Spectral power and phase-amplitude coupling characteristics were analyzed. In 26/28 PD and 11/12 isolated dystonia patients, the LFP power spectrum had a peak in the beta frequency range, with similar amplitudes between groups. Resting state power did not differ between groups in the theta (5-8 Hz), alpha (8-12 Hz), beta (13-30 Hz), broadband gamma (50-200 Hz), or high frequency oscillation (HFO, 250-350 Hz) bands. Analysis of phase-amplitude coupling between low frequency phase and HFO amplitude revealed significant interactions in 19/28 PD and 6/12 dystonia recordings without significant differences in maximal coupling or preferred phase. Two features of subthalamic LFPs that have been proposed as specific parkinsonian biomarkers, beta power and coupling of beta phase to HFO amplitude, were also present in isolated dystonia, including focal dystonias. This casts doubt on the utility of these metrics as disease-specific diagnostic biomarkers.

  16. The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy.

    Science.gov (United States)

    Monbaliu, Elegast; Ortibus, Els; De Cat, Jos; Dan, Bernard; Heyrman, Lieve; Prinzie, Peter; De Cock, Paul; Feys, Hilde

    2012-03-01

    The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP). Twenty-five participants with dyskinetic CP (17 males; eight females; age range 5–22y; mean age 13y 6mo; SD 5y 4mo), recruited from special schools for children with motor disorders, were included. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Interrater reliability was verified by two independent raters. For interrater reliability, intraclass correlation coefficients were assessed. Standard error of measurement, the minimal detectable difference, and Cronbach’s alpha for internal consistency were determined. For concurrent validity of the DIS dystonia subscale, the Barry–Albright Dystonia Scale was administered. The intraclass correlation coefficient for the total DIS score and the two subscales ranged between 0.91 and 0.98 for interrater reliability. The reliability of the choreoathetosis subscale was found to be higher than that of the dystonia subscale. The standard error of the measurement and minimal detectable difference values were adequate. Cronbach’s alpha values ranged from 0.89 to 0.93. Pearson’s correlation between the dystonia subscale and Barry–Albright Dystonia Scale was 0.84 (p<0.001). Good to excellent reliability and validity were found for the DIS. The DIS may be promising for increasing insights into the natural history of dyskinetic CP and evaluating interventions. Future research on the responsiveness of the DIS is warranted.

  17. Thermal hypesthesia in patients with complex regional pain syndrome related dystonia.

    Science.gov (United States)

    Munts, Alexander G; van Rijn, Monique A; Geraedts, Erica J; van Hilten, Jacobus J; van Dijk, J Gert; Marinus, Johan

    2011-04-01

    The quantitative thermal test showed cold and warmth hypesthesia without increased heat pain sensitivity in the affected limbs of complex regional pain syndrome (CRPS) patients with tonic dystonia (n = 44) in comparison with healthy controls with a similar age and sex distribution (n = 35). The degrees of cold and warmth hypesthesia were strongly correlated. We conclude that dysfunction in small nerve fiber (i.e., C and Aδ) processing is present in patients with CRPS-related dystonia.

  18. Adult onset primary focal dystonia of the foot: an orthopaedic intervention.

    Science.gov (United States)

    Logan, Loretta; Resseque, Barbara; Dontamsetti, Monica Sakshi

    2016-03-30

    A 54-year-old woman presented to a foot centre with a chief symptom of cramping in her toes, which, she believed, was of a secondary cause originating from a bunion. She was treated conservatively; however, she returned a month later as the symptoms had progressed to painful cramping of toes, toe-curling and instability while walking, due to involuntary movement of her toes. It was believed that the patient presented with a rare case of primary adult onset focal foot dystonia. This case report explains dystonia further in detail and delves into the different treatment and management options available today, including the unique orthopaedic intervention provided for this patient.

  19. [A case of idiopathic torsion dystonia showing blepharospasm at the onset].

    Science.gov (United States)

    Ohtsu, Mayu; Hayashi, Kitami; Tanaka, Teruyuki; Imai, Kaoru; Osawa, Makiko; Fukuyama, Yukio

    2002-05-01

    We report a 12-year-old boy with idiopathic torsion dystonia. Blepharospasm appeared at the age of 10, followed by truncal hypertonia and progressive scoliosis after 1 year. He had bizarre involuntary movement of his limbs upon waking, which was initially misinterpreted as a psychogenic reaction. Routine neurological examinations revealed no abnormality. Treatment with diazepam, bacrophen, 1-dopa, and clonazepam, led to only short time improvement of symptoms. At the age of 14, his symptoms gradually improved in natural course. At present he is 15 years old, and capable of normal daily activities. His clinical course was not typical of idiopathic torsion dystonia and very rare in children.

  20. Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy.

    Science.gov (United States)

    Kikuchi, Akio; Takeda, Atsushi; Sugeno, Naoto; Miura, Emiko; Kato, Kazuhiro; Hasegawa, Takafumi; Baba, Toru; Konno, Masatoshi; Oshima, Ryuji; Watanuki, Shoichi; Hiraoka, Kotaro; Tashiro, Manabu; Aoki, Masashi

    2016-01-01

    We occasionally observe long-term remission of cervical dystonia after several botulinum toxin treatments. However, botulinum toxin transiently acts on neuromuscular junctions. We herein report that a cervical dystonia patient with spinocerebellar ataxia type 1 could have long-term remission as a result of the depression of hypermetabolism in the bilateral putamen and primary sensorimotor cortex after botulinum toxin therapy. We suggest that botulinum toxin impacts the central nervous system, causing prolonged improvement through the normalization of basal ganglia circuits in addition to its effects at neuromuscular junctions.

  1. Impaired modulation of intracortical inhibition in focal hand dystonia.

    Science.gov (United States)

    Stinear, Cathy M; Byblow, Winston D

    2004-05-01

    Previous studies have shown that intracortical inhibition (ICI) plays an important role in shaping the output from primary motor cortex, and that ICI may be impaired in people with Focal Hand Dystonia (FHD). This study explored the muscle-specificity and temporal modulation of ICI during the performance of a phasic index finger flexion task. Eight control subjects and seven with FHD were asked to rest their dominant hand upon a computer mouse, and depress the mouse button using their index finger in time with a 1 Hz auditory metronome, while keeping the rest of their hand as relaxed as possible. Responses to single and paired-pulse transcranial magnetic stimulation were recorded from the first dorsal interosseous (FDI) and abductor pollicis brevis (APB) muscles while subjects were at rest and during 'on' and 'off' phases of the task. For control subjects during the movement (i). FDI motor evoked potential (MEP) amplitude and pretrigger EMG increased, and ICI decreased, as expected, and (ii). there was no significant facilitation of MEP amplitude or pretrigger EMG for APB, which was associated with a significant increase in ICI during the movement. This may have helped prevent the unwanted activation of this muscle. While FHD subjects demonstrated the same patterns of modulation of both MEP amplitude and pretrigger EMG for both FDI and APB, their levels of ICI were not modulated by task performance. This was despite no difference between subject groups in the level of ICI observed at rest. These findings suggest that FHD is associated with impaired modulation of ICI during performance of a precise manual task, which may contribute to a lack of specificity in the output from M1 and the development of dystonic symptoms.

  2. Asymmetric pallidal neuronal activity in patients with cervical dystonia

    Directory of Open Access Journals (Sweden)

    Christian KE eMoll

    2014-02-01

    Full Text Available The origin of asymmetric clinical manifestation of symptoms in patients suffering from cervical dystonia (CD is hitherto poorly understood. Dysregulated neuronal activity in the basal ganglia has been suggested to have a role in the pathophysiology of CD. Here, we re-assessed the question to what extent relative changes occur in the direct versus indirect basal ganglia pathway in CD, whether these circuit changes are lateralized, and how these alterations relate to CD symptoms. To this end, we recorded ongoing single cell and local field potential (LFP activity from the external (GPe and internal pallidal segment (GPi of thirteen CD patients undergoing microelectrode-guided stereotactic surgery for deep brain stimulation in the GPi. We compared pallidal recordings from CD patients operated under local anaesthesia (LA with those obtained in CD patients operated under general anaesthesia (GA. In awake patients, mean GPe discharge rate (52 Hz was lower than that of GPi (72 Hz. Mean GPi discharge ipsilateral to the side of head turning was higher than contralateral and correlated with torticollis symptom severity. Lateralized differences were absent at the level of the GPe and in recordings from patients operated under GA. Furthermore, in the GPi of CD patients there was a subpopulation of theta-oscillatory cells with unique bursting characteristics. Power and coherence of GPe- and GPi-LFPs were dominated by a theta peak and also exhibited band-specific interhemispheric differences. Strong cross-frequency coupling of low-gamma amplitude to theta phase was a feature of pallidal LFPs recorded under LA, but not GA. These results indicate that CD is associated with an asymmetric pallidal outflow. Based on the finding of symmetric neuronal discharges in the GPe, we propose that an imbalanced interhemispheric direct pathway gain may be involved in CD pathophysiology.

  3. [A case of 77-year-old male with spinocerebellar ataxia type 31 with left dominant dystonia].

    Science.gov (United States)

    Saito, Rie; Kikuno, Shota; Maeda, Meiko; Uesaka, Yoshikazu; Ida, Masahiro

    2014-01-01

    We report on the case of a 77-year-old male with genetically proven spinocerebellar ataxia type 31 (SCA31) who had dystonia. He was referred to our hospital for evaluation following a 6-year history of slowly progressive unsteadiness of his left leg during walking and dysarthria at the age of 62 years old. On the basis of his symptoms, we diagnosed him as spinocerebellar degeneration (SCD), and prescribed taltirelin hydrate. However, his symptoms continued to worsen. He required a cane for walking at the age of 63 years, and a wheelchair at the age of 66 years. He was admitted to our hospital following acute cerebral infarction at the age of 77 years. On examination at admission, right hemiparesis and cerebellar ataxia were detected. And left hallux moved involuntarily toward the top surface of the foot at rest, that is dystonia. The dystonia was not associated with cerebral infarction, because it had been several years with dystonia that he got cerebral infarction. Genetic analysis revealed that this patient harbored a heterozygous SCA31 mutation. Previously there have been no reports of SCA31 associated with dystonia. Our case report support clinical heterogeneity of SCA31, and highlight the importance of considering this type in patients with dystonia and ataxia. Patients with the combination of dystonia and ataxia and a family history of a neurodegenerative disorder should be tested for SCA31.

  4. Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia

    Directory of Open Access Journals (Sweden)

    Lynley eBradnam

    2015-05-01

    Full Text Available There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition evoked by transcranial magnetic stimulation (TMS. Eight people with dystonia (5 writer’s dystonia, 3 musician’s dystonia and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer’s Cramp Rating Scale and the Arm Dystonia Disability Scale. The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked cerebellar-brain inhibition at baseline and the Writer’s Cramp Rating Scale in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in cerebellar-brain inhibition within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia.

  5. Focal Hand Dystonia as a Sign of Demyelinating Attack in Multipl Sclerosis: 'Report of Three Cases’

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    Özge Öcek

    2014-12-01

    Full Text Available Although it is known that dystonia is a basal ganglia disease, dystonic symptoms have been observed in association with lesions of various sites located in sensory and motor pathways. We report three cases of paroxysmal focal hand dystonia, which may be due to the damage of the somatosensorial pathways in the cervical spinal cord. We suggest that the dystonia in our patients may be related to these active demyelinating cervical plaques. Two female and one male patients with definite relapsing remitting MS between the ages of 22 to 45 were admitted with serious disability while using their right hands. In all three cases abnormal posture in the right hand and involuntary sustained contractions together with minor choreiform movements of the fingers were observed. Cervical MRI showed contrast-enhancing demyelinating lesions at the level of C2-3 in all. In one of the patient’s cranial MRI revealed also two new contrast-enhancing plaques on the neighbourhood of right posterior lateral ventricle and parietal cortex. No new or enhancing lesion was detected in the basal ganglia; indicating that the cervical spinal cord lesions were responsible for hand dystonia. In one of the patients, the right median SEP response was absent in accordance with the clinical symptom. All three patients were treated with 1 gram intravenous methylprednisolone a day for 5-10 days. Approximately one month later clinical symptoms have been completely disappeared and control cervical MRI revealed resolution of the active lesions in all.

  6. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  7. Dynamic cortical gray matter volume changes after botulinum toxin in cervical dystonia

    NARCIS (Netherlands)

    Delnooz, C.C.S.; Pasman, J.W.; Warrenburg, B.P.C. van de

    2015-01-01

    Previous electrophysiological and functional imaging studies in focal dystonia have reported on cerebral reorganization after botulinum toxin (BoNT) injections. With the exception of microstructural changes, alterations in gray matter volume after BoNT have not been explored. In this study, we

  8. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    NARCIS (Netherlands)

    Spruijt, L.; Smeets, H.J.M.; Hendrickx, A.; Bettink-Remeijer, M.W.; Maat-Kievit, A.; Schoonderwoerd, K.C.; Sluiter, W.; Coo, I.F.M. de; Hintzen, R.Q.

    2007-01-01

    OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95%

  9. Abnormal surface EMG during clinically normal wrist movement in cervical dystonia

    NARCIS (Netherlands)

    de Vries, P. M.; Leenders, K. L.; van der Hoeven, J. H.; de Jong, B. M.; Kuiper, A. J.; Maurits, N. M.

    2007-01-01

    We investigated whether patients with cervical dystonia (CD) have abnormal muscle activation in non-dystonic body parts. Eight healthy controls and eight CD patients performed a flexion-extension movement of the right wrist. Movement execution was recorded by surface electromyography (EMG) from fore

  10. Multitarget Multiscale Simulation for Pharmacological Treatment of Dystonia in Motor Cortex

    Science.gov (United States)

    Neymotin, Samuel A.; Dura-Bernal, Salvador; Lakatos, Peter; Sanger, Terence D.; Lytton, William W.

    2016-01-01

    A large number of physiomic pathologies can produce hyperexcitability in cortex. Depending on severity, cortical hyperexcitability may manifest clinically as a hyperkinetic movement disorder or as epilpesy. We focus here on dystonia, a movement disorder that produces involuntary muscle contractions and involves pathology in multiple brain areas including basal ganglia, thalamus, cerebellum, and sensory and motor cortices. Most research in dystonia has focused on basal ganglia, while much pharmacological treatment is provided directly at muscles to prevent contraction. Motor cortex is another potential target for therapy that exhibits pathological dynamics in dystonia, including heightened activity and altered beta oscillations. We developed a multiscale model of primary motor cortex, ranging from molecular, up to cellular, and network levels, containing 1715 compartmental model neurons with multiple ion channels and intracellular molecular dynamics. We wired the model based on electrophysiological data obtained from mouse motor cortex circuit mapping experiments. We used the model to reproduce patterns of heightened activity seen in dystonia by applying independent random variations in parameters to identify pathological parameter sets. These models demonstrated degeneracy, meaning that there were many ways of obtaining the pathological syndrome. There was no single parameter alteration which would consistently distinguish pathological from physiological dynamics. At higher dimensions in parameter space, we were able to use support vector machines to distinguish the two patterns in different regions of space and thereby trace multitarget routes from dystonic to physiological dynamics. These results suggest the use of in silico models for discovery of multitarget drug cocktails. PMID:27378922

  11. Multitarget Multiscale Simulation for Pharmacological Treatment of Dystonia in Motor Cortex.

    Science.gov (United States)

    Neymotin, Samuel A; Dura-Bernal, Salvador; Lakatos, Peter; Sanger, Terence D; Lytton, William W

    2016-01-01

    A large number of physiomic pathologies can produce hyperexcitability in cortex. Depending on severity, cortical hyperexcitability may manifest clinically as a hyperkinetic movement disorder or as epilpesy. We focus here on dystonia, a movement disorder that produces involuntary muscle contractions and involves pathology in multiple brain areas including basal ganglia, thalamus, cerebellum, and sensory and motor cortices. Most research in dystonia has focused on basal ganglia, while much pharmacological treatment is provided directly at muscles to prevent contraction. Motor cortex is another potential target for therapy that exhibits pathological dynamics in dystonia, including heightened activity and altered beta oscillations. We developed a multiscale model of primary motor cortex, ranging from molecular, up to cellular, and network levels, containing 1715 compartmental model neurons with multiple ion channels and intracellular molecular dynamics. We wired the model based on electrophysiological data obtained from mouse motor cortex circuit mapping experiments. We used the model to reproduce patterns of heightened activity seen in dystonia by applying independent random variations in parameters to identify pathological parameter sets. These models demonstrated degeneracy, meaning that there were many ways of obtaining the pathological syndrome. There was no single parameter alteration which would consistently distinguish pathological from physiological dynamics. At higher dimensions in parameter space, we were able to use support vector machines to distinguish the two patterns in different regions of space and thereby trace multitarget routes from dystonic to physiological dynamics. These results suggest the use of in silico models for discovery of multitarget drug cocktails.

  12. Dystonia an unusual presentation in pediatric moyamoya disease: Imaging findings of a case

    Directory of Open Access Journals (Sweden)

    Suresh Kumar

    2016-01-01

    Full Text Available Moyamoya disease (MMD is a rare cerebrovascular disease characterized by idiopathic occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels along anterior or posterior circulation. We present an unusual case of MMD presenting with generalized dystonia as the predominant manifestation.

  13. Plasticity of cortical inhibition in dystonia is impaired after motor learning and paired-associative stimulation

    NARCIS (Netherlands)

    Meunier, Sabine; Russmann, Heike; Shamim, Ejaz; Lamy, Jean-Charles; Hallett, Mark

    2012-01-01

    Artificial induction of plasticity by paired associative stimulation (PAS) in healthy volunteers (HV) demonstrates Hebbian-like plasticity in selected inhibitory networks as well as excitatory networks. In a group of 17 patients with focal hand dystonia and a group of 19 HV, we evaluated how PAS and

  14. A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia

    DEFF Research Database (Denmark)

    Schjerling, Lisbeth; Hjermind, Lena E; Jespersen, Bo;

    2013-01-01

    ratings were assessed by using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and video recordings. Quality of life was evaluated by using questionnaires (36-item Short Form Health Survey). Supplemental Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores were assessed for patients...

  15. Sensory tricks in cervical dystonia : Perceptual dysbalance of parietal cortex modulates frontal motor programming

    NARCIS (Netherlands)

    Naumann, M; Magyar-Lehmann, S; Reiners, K; Erbguth, F; Leenders, KL

    2000-01-01

    Cervical dystonia is a disabling basal ganglia disorder characterized by an involuntary head deviation to one side. A typical but also mysterious feature is the impressive improvement of muscle spasms and involuntary head posture by application of a sensory facia stimulus (sensory trick), Here, we r

  16. Structural, functional and molecular imaging of the brain in primary focal dystonia-A review

    NARCIS (Netherlands)

    Zoons, E.; Booij, J.; Nederveen, A. J.; Dijk, J. M.; Tijssen, M. A. J.

    2011-01-01

    Primary focal dystonias form a group of neurological disorders characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures. The estimated incidence is 12-25 per 100,000. The pathophysiology is largely unclear but genetic and environmental influences a

  17. Multiple sessions of low-frequency repetitive transcranial magnetic stimulation in focal hand dystonia

    DEFF Research Database (Denmark)

    Kimberley, Teresa Jacobson; Borich, Michael R; Arora, Sanjeev

    2013-01-01

    Purpose: The ability of low-frequency repetitive transcranial magnetic stimulation (rTMS) to enhance intracortical inhibition has motivated its use as a potential therapeutic intervention in focal hand dystonia (FHD). In this preliminary investigation, we assessed the physiologic and behavioral...

  18. Sensory dysfunction associated with repetitive strain injuries of tendinitis and focal hand dystonia: a comparative study.

    Science.gov (United States)

    Byl, N; Wilson, F; Merzenich, M; Melnick, M; Scott, P; Oakes, A; McKenzie, A

    1996-04-01

    Repetitive strain injuries are reaching epidemic levels among workers who perform heavy schedules of rapid alternating movements (eg., computer programmers, data entry workers) or repetitive, sustained, coordinated movements (eg., editors, writers, salespeople). The purpose of this study was to determine if patients with repetitive strain injury demonstrated degraded sensory motor performance with their hands. Sixty age-matched adults were recruited, with 15 each assigned to a healthy adult control group, a healthy musician control group, a tendinitis group, or a focal dystonia group. Four sensory motor subtests from the Sensory Integration and Praxis Test were given to the subjects according to a standardized protocol. Using multiple one-factor analyses of variance in the parametric or nonparametric mode followed by post hoc pairwise testing, no significant differences were found between the healthy controls and the musician controls. On the test of kinesthesia, using the left hand, subjects with tendinitis performed significantly worse than controls and subjects with focal dystonia. Compared with controls, subjects with focal dystonia did significantly worse on graphesthesia and manual form perception (part 1 and part 2). Subjects with focal dystonia also did significantly worse than subjects with tendinitis when using the left hand on graphesthesia and manual form perception (part 2). When treating patients with repetitive strain injury, discriminative sensory motor skills must be carefully assessed and may need to be addressed as part of an effective treatment program.

  19. Fixed Dystonia in Complex Regional Pain Syndrome: a Descriptive and Computational Modeling Approach

    NARCIS (Netherlands)

    Munts, A.G.; Mugge, W.; Meurs, T.S.; Schouten, A.C.; Marinus, J.; Lorimer Moseley, G.; Van der Helm, F.C.T.; Van Hilten, J.J.

    2011-01-01

    Background: Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has b

  20. Twiddler's syndrome in a patient with a deep brain stimulation device for generalized dystonia

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Schweder, Patrick M; Joint, Carole

    2011-01-01

    Deep brain stimulation (DBS) is the technique of neurostimulation of deep brain structures for the treatment of conditions such as essential tremor, dystonia, Parkinson's disease and chronic pain syndromes. The procedure uses implanted deep brain stimulation electrodes connected to extension leads...

  1. Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

    NARCIS (Netherlands)

    Rijn, Monica Adriana van

    2010-01-01

    The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most prevale

  2. Paroxysmal autonomic instability with dystonia in a patient with tuberculous meningitis: a case report

    Directory of Open Access Journals (Sweden)

    Ramdhani Navin A

    2010-09-01

    Full Text Available Abstract Introduction This case report describes an extremely rare combination of paroxysmal autonomic instability with dystonia and tuberculous meningitis. Paroxysmal autonomic instability with dystonia is normally associated with severe traumatic brain injury. Case presentation A 69-year-old man of Indonesian descent was initially suspected of having a community-acquired pneumonia, which was seen on chest X-ray and computed tomography of the chest. However, a bronchoscopy showed no abnormalities. He was treated with amoxicillin-clavulanic acid in combination with ciprofloxacin. However, nine days after admission he was disorientated and complained of headache. Neurological examination revealed no further abnormalities. A lumbar puncture revealed no evidence of meningitis. He was then transferred to our hospital. At that time, initial cultures of bronchial fluid for Mycobacterium tuberculosis turned positive, as well as polymerase chain reaction for Mycobacterium tuberculosis. Later, during his stay in our intensive care unit, he developed periods with hypertension, sinus tachycardia, excessive transpiration, decreased oxygen saturation with tachypnea, pink foamy sputum, and high fever. This constellation of symptoms was accompanied by dystonia in the first days. These episodes lasted approximately 30 minutes and improved after administration of morphine, benzodiazepines or clonidine. Magnetic resonance imaging showed an abnormal signal in the region of the hippocampus, thalamus and the anterior parts of the lentiform nucleus and caudate nucleus. Conclusions In patients with (tuberculous meningitis and episodes of extreme hypertension and fever, paroxysmal autonomic instability with dystonia should be considered.

  3. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  4. Management of tongue and lip laceration due to dystonia in a 1-year-old infant

    Directory of Open Access Journals (Sweden)

    J P Beena

    2017-01-01

    Full Text Available This case report describes the management of tongue and lip lacerations due to dystonia in a 1-year-old infant. A splint was given to raise the bite and prevent repeated trauma and aid in healing of the oral tissue. This paper highlights the importance of pediatric dentist's role in improving quality of patient care in an intensive care unit.

  5. Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping

    NARCIS (Netherlands)

    de Koning, Tom J; Tijssen, Marina A J

    2015-01-01

    Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of p

  6. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    NARCIS (Netherlands)

    Spruijt, L.; Smeets, H.J.M.; Hendrickx, A.; Bettink-Remeijer, M.W.; Maat-Kievit, A.; Schoonderwoerd, K.C.; Sluiter, W.; Coo, I.F.M. de; Hintzen, R.Q.

    2007-01-01

    OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95%

  7. A Beautician’s Dystonia: Long-Lasting Effect of Botulinum Toxin

    Directory of Open Access Journals (Sweden)

    Siria Di Martino

    2014-01-01

    Full Text Available Treatment options for dystonia are not curative but symptomatic; the treatment of choice for focal dystonias is repeated botulinum toxin injections. Here, we present the case of a 46-year-old beautician with focal dystonia in her left hand that affected her ability to work. Pharmacological treatment with clonazepam and gabapentin failed to resolve her symptoms and was discontinued due to side effects (sleepiness, gastrointestinal disorders. Intramuscular injection of botulinum toxin (incobotulinumtoxinA, Xeomin into the extensor digitorum communis (35 U, flexor carpi radialis (35 U, and flexor digitorum superficialis (30 U muscles resulted in complete resolution of symptoms at clinical assessments at 1, 3, 6, and 10 months after the injections, confirmed by the results of surface electromyography 10 months after treatment. The patient was able to work again 1 month after treatment. No reinjection has been necessary at the last evaluation (12 months after treatment. In conclusion, botulinum toxin is an effective treatment for focal dystonia that can have long-lasting effects and can improve patients’ ability to work and quality of life.

  8. [Chronic high frequency deep brain stimulation of the globus pallidus internus for torsion dystonia].

    Science.gov (United States)

    Vesper, J; Klostermann, F; Funk, T; Bock, M

    2002-01-01

    Deep Brain Stimulation (DBS, chronic high frequency stimulation) is well established for Parkinson's disease and tremordominant movement disorders. Generalized dystonia is known as a type of movement disorder in which therapeutic options are very limited. A case of generalized dystonia is reported which was successfully treated by DBS in the Globus pallidus internus (GPI). A 26 years old male suffered from severe torsion dystonia of the lower limbs. The onset of symptoms was at age 7. It started with dystonia of the left foot. He very fast developed severe dystonia of the lower limbs. These complaints were initially treated by diazepam, later by baclofen (Lioresal ((R))) p.o em leader There was no L-DOPA response. Because of the rapid progression of the disease a cervical spinal cord stimulator was implanted with a transient success. Due to further progression of the disease the patient became wheelchair bounded and resistant for oral medication. Limited improvement of symptoms was achieved using continuous intrathecal administration of baclofen. Finally the patient was treated with 980 microgram intrathecal Baclofen (Lioresal ((R))) daily and up to 100 mg diazepam. Under these conditions the patient remained wheelchair bounded with severe lower limb dystonia. As an ultima ratio it was decided to treat the patient with stereotactic implantation of two electrodes (Medtronic 3387) and two neurostimulators (Medtronic ITREL ((R))II). The GPI was the bilateral target point. Intraoperative computerized tomography and ventriculography were used for target setting. Furthermore microrecordings were helpful to ensure the exact electrode positioning. Surgery was performed under sedation. Two weeks after surgery first improvement of symptoms was observed. Patient was able to stand with assistance. At the three months follow-up he could walk without assistance. Slight dystonic movement of the left ankle was the only remaining symptom under stimulation. The oral medication has

  9. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-02-01

    Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but their utility as a possible endophenotype has not been examined. We examined 35 adult-onset primary torsion dystonia patients (17 familial, 18 sporadic), 42 unaffected first-degree relatives of both familial and sporadic adult-onset primary torsion dystonia patients, 32 unaffected second-degree relatives of familial adult-onset primary torsion dystonia (AOPTD) patients and 43 control subjects. TDT was measured using visual and tactile stimuli. In 33 unaffected relatives, voxel-based morphometry was used to compare putaminal volumes between relatives with abnormal and normal TDTs. The mean TDT in 26 control subjects under 50 years of age was 22.85 ms (SD 8.00; 95% CI: 19.62-26.09 ms). The mean TDT in 17 control subjects over 50 years was 30.87 ms (SD 5.48; 95% CI: 28.05-33.69 ms). The upper limit of normal, defined as control mean + 2.5 SD, was 42.86 ms in the under 50 years group and 44.58 ms in the over 50 years group. Thirty out of thirty-five (86%) AOPTD patients had abnormal TDTs with similar frequencies of abnormalities in sporadic and familial patients. Twenty-two out of forty-two (52%) unaffected first-degree relatives had abnormal TDTs with similar frequencies in relatives of sporadic and familial AOPTD patients. Abnormal TDTs were found in 16\\/32 (50%) of second-degree relatives. Voxel-based morphometry analysis comparing 13 unaffected relatives with abnormal TDTs and 20 with normal TDTs demonstrated a bilateral increase in putaminal grey matter in unaffected relatives with abnormal

  10. Body weight gain in patients with bilateral deep brain stimulation for dystonia.

    Science.gov (United States)

    Wolf, Marc E; Capelle, Hans-Holger; Lütjens, Götz; Ebert, Anne D; Hennerici, Michael G; Krauss, Joachim K; Blahak, Christian

    2016-03-01

    In patients with Parkinson's disease, significant weight gain following chronic deep brain stimulation (DBS) has been reported. Recently, relevant weight gain could be demonstrated also following subthalamic nucleus DBS in patients with primary cervical dystonia. Prospective analyses of body weight changes following DBS in patients with dystonia, however, have not been published so far. We aimed to analyse the changes of body weight following DBS in patients with dystonia. The body mass index (BMI) of 17 consecutive patients with segmental or generalised dystonia (mean age 54.6 ± 16.1 years) treated with bilateral DBS of the globus pallidus internus (GPi) (n = 14) or the thalamic ventral intermediate nucleus (n = 3) was measured preoperatively (pre-OP) and at three follow-up (FU) time points post-DBS surgery (FU1 = 7 months, FU2 = 17 months, FU3 = 72 months). All patients benefited from marked improvement in their dystonia. The mean BMI pre-OP (SD) was 22.5 (±3.7) kg/m(2) and increased stepwise to 24.0 (±3.3) kg/m(2) at FU1, 24.4 (±3.7) kg/m(2) at FU2 and 24.9 (±3.7) kg/m(2) at FU3 (p weight gain, in particular during the first 6 months post-OP. This probably is a result of improvement of dystonic motor symptoms and recovery of eating dysfunction rather than a target-specific phenomenon.

  11. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

    Science.gov (United States)

    LeDoux, Mark S.; Xiao, Jianfeng; Rudzińska, Monika; Bastian, Robert W.; Wszolek, Zbigniew K.; Van Gerpen, Jay A.; Puschmann, Andreas; Momčilović, Dragana; Vemula, Satya R.; Zhao, Yu

    2012-01-01

    An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1,114 subjects with mainly adult-onset primary dystonia (Neurology 2010;74:229-238) and identified 6 missense mutations in THAP1. For this report, we screened 750 additional subjects for mutations in coding regions of THAP1 and interrogated all published descriptions of THAP1 phenotypes (gender, age of onset, anatomical distribution of dystonia, family history and site of onset) to explore the possibility of THAP1 genotype-phenotype correlations and facilitate a deeper understanding of THAP1 pathobiology. We identified 5 additional missense mutations in THAP1 (p.A7D, p.K16E, p.S21C, p.R29Q, and p.I80V). Three of these variants are associated with appendicular tremors, which were an isolated or presenting sign in some of the affected subjects. Abductor laryngeal dystonia and mild blepharospasm can be manifestations of THAP1 mutations in some individuals. Overall, mean age of onset for THAP1 dystonia is 16.8 years and the most common sites of onset are the arm and neck, and the most frequently affected anatomical site is the neck. In addition, over half of patients exhibit either cranial or laryngeal involvement. Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1. PMID:22377579

  12. Diffuse Decreased Gray Matter in Patients with Idiopathic Craniocervical Dystonia: a Voxel-Based Morphometry Study

    Directory of Open Access Journals (Sweden)

    Camila Callegari Piccinin

    2015-01-01

    Full Text Available Background: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia. Neuroimaging studies have attempted to identify structural abnormalities in craniocervical dystonia but a clear pattern of alteration has not been established. We performed whole brain evaluation using voxel-based morphometry to identify patterns of gray matter changes in craniocervical dystonia.Methods: We compared 27 patients with craniocervical dystonia matched in age and gender to 54 healthy controls. Voxel-based morphometry was used to compare gray matter volumes. We created a two-sample t-test corrected for subjects’ age and we tested with a level of significance of p<0.001 and false discovery rate correction (p<0.05. Results: Voxel-based morphometry demonstrated significant reductions of gray matter using p<0.001 in the cerebellar vermis IV/V, bilaterally in the superior frontal gyrus, precuneus, anterior cingulate and paracingulate, insular cortex, lingual gyrus and calcarine fissure; in the left hemisphere in the supplemementary motor area (SMA, inferior frontal gyrus, inferior parietal gyrus, temporal pole, supramarginal gyrus, rolandic operculum , hippocampus, middle occipital gyrus, cerebellar lobules IV/V, superior and middle temporal gyri; in the right hemisphere, the middle cingulate and precentral gyrus. Our study did not report any significant result using the false discovery rate correction. We also detected correlations between gray matter volume and age, disease duration, duration of botulinum toxin treatment and the Marsden-Fahn dystonia scale scores.Conclusions: We detected large clusters of gray matter changes chiefly in structures primarily involved in sensorimotor integration, motor planning, visuospatial function and emotional processing.

  13. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.

    LENUS (Irish Health Repository)

    Walsh, Richard A

    2012-02-01

    Structural grey matter abnormalities have been described in adult-onset primary torsion dystonia (AOPTD). Altered spatial discrimination thresholds are found in familial and sporadic AOPTD and in some unaffected relatives who may be non-manifesting gene carriers. Our hypothesis was that a subset of unaffected relatives with abnormal spatial acuity would have associated structural abnormalities. Twenty-eight unaffected relatives of patients with familial cervical dystonia, 24 relatives of patients with sporadic cervical dystonia and 27 control subjects were recruited. Spatial discrimination thresholds (SDTs) were determined using a grating orientation task. High-resolution magnetic resonance imaging (MRI) images (1.5 T) were analysed using voxel-based morphometry. Unaffected familial relatives with abnormal SDTs had reduced caudate grey matter volume (GMV) bilaterally relative to those with normal SDTs (right Z = 3.45, left Z = 3.81), where there was a negative correlation between SDTs and GMV (r = -0.76, r(2) = 0.58, p < 0.0001). Familial relatives also had bilateral sensory cortical expansion relative to unrelated controls (right Z = 4.02, left Z = 3.79). Unaffected relatives of patients with sporadic cervical dystonia who had abnormal SDTs had reduced putaminal GMV bilaterally compared with those with normal SDTs (right Z = 3.96, left Z = 3.45). Sensory abnormalities in some unaffected relatives correlate with a striatal substrate and may be a marker of genetic susceptibility in these individuals. Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia.

  14. Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value.

    Science.gov (United States)

    Zoons, E; Dijkgraaf, M G W; Dijk, J M; van Schaik, I N; Tijssen, M A

    2012-12-01

    Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the pharmaco-therapeutic and pharmaco-economic value of botulinum toxin as treatment for focal dystonia, which yielded the following results. Botulinum toxin is the most effective treatment for reducing dystonic symptoms measured with dystonia-specific and general questionnaires, and pain in patients with focal dystonia. Seventy-one percent of patients with cervical dystonia had a reduction in neck pain compared to 12 % in placebo groups. Adverse events occur in 58 % of patients during treatment with botulinum toxin compared to 46 % treated with placebo. Especially dry mouth, neck weakness, dysphagia, and voice changes are common. Adverse events are usually mild and self-limiting. Health-related quality of life, measured with the SF-36 is 20-50 points lower in patients with focal dystonia compared to controls and the effect of botulinum toxin on health-related quality of life is unclear. Botulinum toxin treatment is expensive because the drug itself is expensive. Yearly costs for treating a patient with focal dystonia with botulinum toxin range from EUR 347 to EUR 3,633 and the gain in QALYs with BTX treatment is small. Focal dystonia impairs the productivity and the ability to work. At start of botulinum toxin treatment only 47-50 % was working. Botulinum toxin partly improves this. Overall, we conclude that botulinum toxin is an expensive drug with good effects. From a societal perspective, the costs may well weigh up to the regained quality of life. However, the available literature concerning costs, health-related quality of life and labor participation is very limited. An extensive cost-effectiveness study should be performed incorporating all these aspects.

  15. Aristotle's illusion reveals interdigit functional somatosensory alterations in focal hand dystonia.

    Science.gov (United States)

    Tinazzi, Michele; Marotta, Angela; Fasano, Alfonso; Bove, Francesco; Bentivoglio, Anna Rita; Squintani, Giovanna; Pozzer, Lara; Fiorio, Mirta

    2013-03-01

    In focal hand dystonia, the cortical somatosensory representation of the fingers is abnormal, with overlapping receptive fields and reduced interdigit separation. These abnormalities are associated with deficits in sensory perception, as previously demonstrated by applying tactile stimuli to one finger at a time. What is still unknown is whether the sensory deficits can be observed when tactile perception involves more than one finger. To address this issue, we applied 'Aristotle's illusion' to 15 patients with focal hand dystonia, 15 patients with dystonia not affecting the hand (blepharospasm and cervical dystonia) and 15 healthy control subjects. In this illusion, one object touching the contact point of two crossed fingertips is perceived as two objects by a blindfolded subject. The same object placed between two parallel fingertips is correctly perceived as one. The illusory doubling sensation is because of the fact that the contact point between the crossed fingers consists of non-adjacent and functionally unrelated skin regions, which usually send sensory signals to separate spots in the somatosensory cortex. In our study, participants were touched by one sphere between the second-third digits, the second-fourth digits and the fourth-fifth digits of both hands, either in crossed or in parallel position, and had to refer whether they felt one or two stimuli. The percentage of 'two stimuli' responses was an index of the illusory doubling. Both healthy control subjects and dystonic patients presented Aristotle's illusion when the fingers were crossed. However, patients with focal hand dystonia presented a significant reduction of the illusion when the sphere was placed between the crossed fourth and fifth digits of the affected hand. This reduction correlated with the severity of motor disease at the fingers. Similar findings were not observed in non-hand dystonia and control groups. The reduction of Aristotle's illusion in non-affected fingers and its

  16. Continuous involuntary hand movements and schizencephaly: epilepsia partialis continua or dystonia?

    Science.gov (United States)

    Marinelli, Lucio; Bonzano, Laura; Saitta, Laura; Trompetto, Carlo; Abbruzzese, Giovanni

    2012-04-01

    Schizencephaly is regarded as a malformation of cortical development (due to abnormal neuronal organization) and may be associated with continuous involuntary hand movements. The mechanisms underlying these movements are not clear and both dystonia and epilepsia partialis continua have been considered in previously reported cases. We describe a young patient affected by schizencephaly and continuous involuntary movements of the contralateral hand. Functional MRI showed bilateral cerebral activation, while the subject performed tapping movements with the affected hand and no significant difference in the activation pattern after diazepam infusion. Standard and back-averaged EEG showed no alterations. The results obtained from these investigations and the clinical features of the involuntary movements are not in favor of an epileptic genesis, while support the diagnosis of secondary dystonia.

  17. Dopamine receptor and Gα(olf expression in DYT1 dystonia mouse models during postnatal development.

    Directory of Open Access Journals (Sweden)

    Lin Zhang

    Full Text Available DYT1 dystonia is a heritable, early-onset generalized movement disorder caused by a GAG deletion (ΔGAG in the DYT1 gene. Neuroimaging studies and studies using mouse models suggest that DYT1 dystonia is associated with dopamine imbalance. However, whether dopamine imbalance is key to DYT1 or other forms of dystonia continues to be debated.We used Dyt1 knock out (Dyt1 KO, Dyt1 ΔGAG knock-in (Dyt1 KI, and transgenic mice carrying one copy of the human DYT1 wild type allele (DYT1 hWT or human ΔGAG mutant allele (DYT1 hMT. D1R, D2R, and Gα(olf protein expression was analyzed by western blot in the frontal cortex, caudate-putamen and ventral midbrain in young adult (postnatal day 60; P60 male mice from all four lines; and in the frontal cortex and caudate putamen in juvenile (postnatal day 14; P14 male mice from the Dyt1 KI and KO lines. Dopamine receptor and Gα(olf protein expression were significantly decreased in multiple brain regions of Dyt1 KI and Dyt1 KO mice and not significantly altered in the DYT1 hMT or DYT1 hWT mice at P60. The only significant change at P14 was a decrease in D1R expression in the caudate-putamen of the Dyt1 KO mice.We found significant decreases in key proteins in the dopaminergic system in multiple brain regions of Dyt1 KO and Dyt1 KI mouse lines at P60. Deletion of one copy of the Dyt1 gene (KO mice produced the most pronounced effects. These data offer evidence that impaired dopamine receptor signaling may be an early and significant contributor to DYT1 dystonia pathophysiology.

  18. Patients with primary cervical dystonia have evidence of discrete deficits in praxis

    OpenAIRE

    Hoffland, Britt Sofie; Snik, Dorinda; Kailash P Bhatia; Baratelli, Elena; Katschnig, Petra; Schwingenschuh, Petra; Crutch, Sebastian; Van De Warrenburg, Bart P; Edwards, Mark J

    2010-01-01

    Abstract Background Functional imaging and electrophysiological data from patients with primary dystonia reveal widespread abnormalities in brain areas associated with higher motor functions, but to date there has been little investigation of the functional consequences of these abnormalities. Our aim was to use a battery of tests of praxis, based on those tests used in routine clinical examination, to uncover evidence of higher motor dysfunction in patients with primary cervica...

  19. Altered postnatal maturation of striatal GABAergic interneurons in a phenotypic animal model of dystonia.

    Science.gov (United States)

    Bode, Christoph; Richter, Franziska; Spröte, Christine; Brigadski, Tanja; Bauer, Anne; Fietz, Simone; Fritschy, Jean-Marc; Richter, Angelika

    2017-01-01

    GABAergic disinhibition has been suggested to play a critical role in the pathophysiology of several basal ganglia disorders, including dystonia, a common movement disorder. Previous studies have shown a deficit of striatal GABAergic interneurons (IN) in the dt(sz) mutant hamster, one of the few phenotypic animal models of dystonia. However, mechanisms underlying this deficit are largely unknown. In the present study, we investigated the migration and maturation of striatal IN during postnatal development (18days of age) and at age of highest severity of dystonia (33days of age) in this hamster model. In line with previous findings, the density of GAD67-positive IN and the level of parvalbumin mRNA, a marker for fast spiking GABAergic IN, were lower in the dt(sz) mutant than in control hamsters. However, an unaltered density of Nkx2.1 labeled cells and Nkx2.1 mRNA level suggested that the migration of GABAergic IN into the striatum was not retarded. Therefore, different factors that indicate maturation of GABAergic IN were determined. While mRNA of the KCC2 cation/chloride transporters and the cytosolic carboanhydrase VII, used as markers for the so called GABA switch, as well as BDNF were unaltered, we found a reduced number of IN expressing the alpha1 subunit of the GABAA-receptor (37.5%) in dt(sz) hamsters at an age of 33days, but not after spontaneous remission of dystonia at an age of 90days. Since IN shift expression from alpha2 to alpha1 subunits during postnatal maturation, this result together with a decreased parvalbumin mRNA expression suggest a delayed maturation of striatal GABAergic IN in this animal model, which might underlie abnormal neuronal activity and striatal plasticity.

  20. Efficacy and safety of pallidal stimulation in primary dystonia: results of the Spanish multicentric study

    OpenAIRE

    Valldeoriola, Francesc; Regidor, Ignacio; Mínguez-Castellanos, Adolfo; Lezcano, Elena; García-Ruiz, Pedro; Rojo, Ana; Salvador, Antonio; Castro, Alfonso; Grandas, Francisco; Martí, Maria José; Martínez-Martín, Pablo; Kulisevsky, Jaime; Relova, Luis; Rumià, Jordi; Cámara, Ana

    2009-01-01

    Abstract We report the results of a prospective, multicenter study with open-label, blinded, as well as self-assessed evaluations to investigate the efficacy and safety of bilateral GPi DBS in patients with primary dystonia. Twenty-four patients from ten different hospitals were included and followed for one year. Clinical assessments were done through blinded scoring of video recordings, open-label evaluations, and self-assessment scales. One year after surgery, baseline motor sco...

  1. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    Science.gov (United States)

    Mencacci, Niccolo E.; Rubio-Agusti, Ignacio; Zdebik, Anselm; Asmus, Friedrich; Ludtmann, Marthe H.R.; Ryten, Mina; Plagnol, Vincent; Hauser, Ann-Kathrin; Bandres-Ciga, Sara; Bettencourt, Conceição; Forabosco, Paola; Hughes, Deborah; Soutar, Marc M.P.; Peall, Kathryn; Morris, Huw R.; Trabzuni, Daniah; Tekman, Mehmet; Stanescu, Horia C.; Kleta, Robert; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Garavaglia, Barbara; Lohmann, Ebba; Weissbach, Anne; Klein, Christine; Hardy, John; Pittman, Alan M.; Foltynie, Thomas; Abramov, Andrey Y.; Gasser, Thomas; Bhatia, Kailash P.; Wood, Nicholas W.

    2015-01-01

    Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%–50% of cases. After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations. All cases initially presented with mild myoclonus affecting the upper limbs. Dystonia showed a progressive course, with increasing severity of symptoms and spreading from the cranio-cervical region to other sites. KCTD17 is abundantly expressed in all brain regions with the highest expression in the putamen. Weighted gene co-expression network analysis, based on mRNA expression profile of brain samples from neuropathologically healthy individuals, showed that KCTD17 is part of a putamen gene network, which is significantly enriched for dystonia genes. Functional annotation of the network showed an over-representation of genes involved in post-synaptic dopaminergic transmission. Functional studies in mutation bearing fibroblasts demonstrated abnormalities in endoplasmic reticulum-dependent calcium signaling. In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. PMID:25983243

  2. Multiday Transcranial Direct Current Stimulation Causes Clinically Insignificant Changes in Childhood Dystonia: A Pilot Study.

    Science.gov (United States)

    Bhanpuri, Nasir H; Bertucco, Matteo; Young, Scott J; Lee, Annie A; Sanger, Terence D

    2015-10-01

    Abnormal motor cortex activity is common in dystonia. Cathodal transcranial direct current stimulation may alter cortical activity by decreasing excitability while anodal stimulation may increase motor learning. Previous results showed that a single session of cathodal transcranial direct current stimulation can improve symptoms in childhood dystonia. Here we performed a 5-day, sham-controlled, double-blind, crossover study, where we measured tracking and muscle overflow in a myocontrol-based task. We applied cathodal and anodal transcranial direct current stimulation (2 mA, 9 minutes per day). For cathodal transcranial direct current stimulation (7 participants), 3 subjects showed improvements whereas 2 showed worsening in overflow or tracking error. The effect size was small (about 1% of maximum voluntary contraction) and not clinically meaningful. For anodal transcranial direct current stimulation (6 participants), none showed improvement, whereas 5 showed worsening. Thus, multiday cathodal transcranial direct current stimulation reduced symptoms in some children but not to a clinically meaningful extent, whereas anodal transcranial direct current stimulation worsened symptoms. Our results do not support transcranial direct current stimulation as clinically viable for treating childhood dystonia.

  3. A distinct variant of mixed dysarthria reflects parkinsonism and dystonia due to ephedrone abuse.

    Science.gov (United States)

    Rusz, Jan; Megrelishvili, Marika; Bonnet, Cecilia; Okujava, Michael; Brožová, Hana; Khatiashvili, Irine; Sekhniashvili, Madona; Janelidze, Marina; Tolosa, Eduardo; Růžička, Evžen

    2014-06-01

    A distinctive alteration of speech has been reported in patients suffering from ephedrone-induced parkinsonism. However, an objective assessment of dysarthria has not been performed in ephedrone users. We studied 28 young Caucasian men from Georgia with a previous history of ephedrone abuse and compared them to 25 age-matched healthy controls. Speech examination, brain MRI, and NNIPPS-Parkinson plus scale were performed in all patients. The accurate differential diagnosis of dysarthria subtypes was based on the quantitative acoustic analyses of 15 speech dimensions. We revealed a distinct variant of mixed dysarthria with a combination of hyperkinetic and hypokinetic components representing the altered motor programming of dystonia and bradykinesia in ephedrone-induced parkinsonism. According to acoustic analyses, all patients presented at least one affected speech dimension, whereas dysarthria was moderate in 43% and severe in 36% of patients. Further findings indicated relationships between motor subscores of dystonia and bradykinesia and speech components of loudness (r = -0.54, p dysarthria occurs that appears related to marked dystonia and bradykinesia and probably reflects manganese induced toxic and neurodegenerative damage to the globus pallidus internus and substantia nigra.

  4. Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes

    Science.gov (United States)

    Lohmann, Ebba; Gasser, Thomas; Grundmann, Kathrin

    2017-01-01

    Dystonia belongs to a group of rare diseases (RDs) characterized by etiologic heterogeneity, affection often in childhood, severe and variable clinical manifestation. The burden of this disease is aggravated by the lack of effective and specific treatment. In the field of dystonia as in other RDs the number of available biospecimens is, in general, limited. Here, we report a new approach to collect clinical and genetic data in biospecimens maintained collaboratively by researchers and their associated institutions in a decentralized system. Allowing researchers to have access to significant numbers of samples and corresponding clinical data, biobanking in dystonia might not only provide a powerful tool in the identification of disease genes but also the classification of variants detected in known genes with respect to their clinical relevance. Growing data in genetics due to the technical progress demand for well-annotated and well-managed biobanks, which in near future hold even the potential for biomarker research and generating medical treatment based on clinical and genetic data currently summarized as “personalized medicine.”

  5. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review.

    Science.gov (United States)

    De Pauw, Joke; Van der Velden, Kevin; Meirte, Jill; Van Daele, Ulrike; Truijen, Steven; Cras, Patrick; Mercelis, Rudy; De Hertogh, Willem

    2014-10-01

    Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended first line treatment is botulinum toxin type A (BoNT/A) injections. Physiotherapy is a potentially useful adjuvant, but little is known about its effectiveness. Consequently, our objective was to investigate the effectiveness of physiotherapy alone or as an adjuvant treatment to BoNT/A injections in cervical dystonia (CD) by means of a systematic literature review. Two online databases, PubMed and Web of Science, were searched for articles describing the effectiveness of physiotherapy treatment for CD. After screening, based on predefined in- and exclusion criteria, 16 studies were retained. Their methodological quality was assessed according to Cochrane guidelines. The methodological quality of most studies was low. Examples of shortcomings are small sample sizes, lack of randomization or blinding, and diversity in therapeutic techniques and outcome measures. Only seven studies were clinical trials; the remaining were either case reports or case series. The reported physiotherapy treatments included EMG biofeedback training, muscular elongation, postural exercises and electrotherapy. Improvements in head position, pain, cervical range of motion, quality of life and ADL have been reported, which is promising. Cautious interpretation on the effectiveness of physiotherapy as an adjuvant therapy is required. Before firm conclusions can be drawn, additional high quality trials are needed.

  6. Deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia--a report of two cases.

    Science.gov (United States)

    Vesper, J; Klostermann, F; Funk, Th; Stockhammer, F; Brock, M

    2002-01-01

    Generalized dystonia is known as a type of movement disorder in which pharmacotherapeutic options are very limited. Deep Brain Stimulation (DBS) is well established for Parkinson's disease (PD) and tremor dominant movement disorders. We report on two cases of generalized dystonia which were successfully treated by chronic high frequency stimulation in the Globus pallidus internus (GPI). Two 26 and 27 years old males suffered from severe torsion dystonia and multisegmental dystonia of the lower limbs. Case 1 is a familiar type of dystonia (DYT1 positive). The onset of symptoms in both cases was at age 7. The complaints were initially treated with orally administered benzodiazepines, anticholinergic drugs, later by baclofen and L-DOPA. However there was no response. Case 2 was a patient with a history of left side dominated dystonia since the age of 8. It was first diagnosed as a psychogenic movement disorder. Prior to surgery he was treated with L-DOPA, anticholinergics, Baclofen without any effect. There was only a limited effect on high doses of diazepam. The patient is DYT1 negative. The target point was on both sides the GPI. Intraoperative computerized tomography (CT) and ventriculography (VG) were used for target setting. Furthermore microrecordings were helpful to ensure the exact electrode position. Surgery was performed under analgosedation. Two weeks after surgery we first observed a relief of symptoms in both cases. A significant reduction in the Burke-Fahn-Marsden-Dystonia Movement Rating Scale was observed at the 6 month follow-up (case 1: 95%, case 2: 80%). In case 1 a slight dystonic movement of the left ankle was the only remaining symptom under stimulation. The medication was continuously reduced. At the 24 month follow-up the effect of stimulation remained unchanged. However high stimulation parameters are required to maintain an optimal effect (mean 3.5 V, 400 microseconds, 145 Hz).

  7. The effects of electroconvulsive therapy on tardive dystonia or dyskinesia induced by psychotropic medication: a retrospective study

    Directory of Open Access Journals (Sweden)

    Yasui-Furukori N

    2014-07-01

    Full Text Available Norio Yasui-Furukori,1 Atsuhiro Kikuchi,1 Hiroshi Katagai,1,2 Sunao Kaneko11Department of Neuropsychiatry, Hirosaki University School of Medicine, 2Department of Neuropsychiatry, Hirosaki-Aiseikai Hospital, Hirosaki, JapanBackground: Tardive dystonia and dyskinesia are potentially irreversible neurological syndromes. Successful electroconvulsive treatment (ECT has been reported by multiple sources; however, the existing retrospective reviews and open prospective trials provide little information on the response rate.Methods: Eighteen consecutive patients with tardive dystonia or dyskinesia received a standard course of ECT to treat abnormal movement. The severity of the tardive dystonia and dyskinesia was evaluated using the Abnormal Involuntary Movement Scale (AIMS before and after the course of ECT. The patients who displayed a greater than 50% improvement in the AIMS score were classified as the responders.Results: The mean AIMS score decreased from 19.1±4.7 to 9.6±4.2. There were seven responders among the 18 patients, which yielded a 39% response rate. Conclusion: ECT has a moderate but significant effect on tardive dystonia and dyskinesia. Keywords: tardive dystonia, tardive diskinesia, ECT, medication

  8. Combined cognitive–behavioural and mindfulness programme for people living with dystonia : a proof-of-concept study

    OpenAIRE

    Sandhu, Harbinder; Bernstein, C. J.; Davies, G.(Imperial College, London, UK); Tang, Nicole K. Y.; Belhag, M; Tingle, A.; Field, M; Foss, Jonathan G. K.; Lindahl, A; Underwood, M. (Martin) M.D.; Ellard, David R.

    2016-01-01

    Objectives To design and test the delivery of an intervention targeting the non-motor symptoms of dystonia and pilot key health and well-being questionnaires in this population.\\ud \\ud Design A proof-of-concept study to test the delivery, acceptability, relevance, structure and content for a 3-day group residential programme for the management of dystonia.\\ud \\ud Setting Participants were recruited from a single botulinum toxin clinic. The intervention was delivered in the community.\\ud \\ud P...

  9. Deep brain stimulation effects in dystonia: time course of electrophysiological changes in early treatment.

    Science.gov (United States)

    Ruge, Diane; Tisch, Stephen; Hariz, Marwan I; Zrinzo, Ludvic; Bhatia, Kailash P; Quinn, Niall P; Jahanshahi, Marjan; Limousin, Patricia; Rothwell, John C

    2011-08-15

    Deep brain stimulation to the internal globus pallidus is an effective treatment for primary dystonia. The optimal clinical effect often occurs only weeks to months after starting stimulation. To better understand the underlying electrophysiological changes in this period, we assessed longitudinally 2 pathophysiological markers of dystonia in patients prior to and in the early treatment period (1, 3, 6 months) after deep brain stimulation surgery. Transcranial magnetic stimulation was used to track changes in short-latency intracortical inhibition, a measure of excitability of GABA(A) -ergic corticocortical connections and long-term potentiation-like synaptic plasticity (as a response to paired associative stimulation). Deep brain stimulation remained on for the duration of the study. Prior to surgery, inhibition was reduced and plasticity increased in patients compared with healthy controls. Following surgery and commencement of deep brain stimulation, short-latency intracortical inhibition increased toward normal levels over the following months with the same monotonic time course as the patients' clinical benefit. In contrast, synaptic plasticity changed rapidly, following a nonmonotonic time course: it was absent early (1 month) after surgery, and then over the following months increased toward levels observed in healthy individuals. We postulate that before surgery preexisting high levels of plasticity form strong memories of dystonic movement patterns. When deep brain stimulation is turned on, it disrupts abnormal basal ganglia signals, resulting in the absent response to paired associative stimulation at 1 month. Clinical benefit is delayed because engrams of abnormal movement persist and take time to normalize. Our observations suggest that plasticity may be a driver of long-term therapeutic effects of deep brain stimulation in dystonia. Copyright © 2011 Movement Disorder Society.

  10. A neuromorphic model of motor overflow in focal hand dystonia due to correlated sensory input

    Science.gov (United States)

    Sohn, Won Joon; Niu, Chuanxin M.; Sanger, Terence D.

    2016-10-01

    Objective. Motor overflow is a common and frustrating symptom of dystonia, manifested as unintentional muscle contraction that occurs during an intended voluntary movement. Although it is suspected that motor overflow is due to cortical disorganization in some types of dystonia (e.g. focal hand dystonia), it remains elusive which mechanisms could initiate and, more importantly, perpetuate motor overflow. We hypothesize that distinct motor elements have low risk of motor overflow if their sensory inputs remain statistically independent. But when provided with correlated sensory inputs, pre-existing crosstalk among sensory projections will grow under spike-timing-dependent-plasticity (STDP) and eventually produce irreversible motor overflow. Approach. We emulated a simplified neuromuscular system comprising two anatomically distinct digital muscles innervated by two layers of spiking neurons with STDP. The synaptic connections between layers included crosstalk connections. The input neurons received either independent or correlated sensory drive during 4 days of continuous excitation. The emulation is critically enabled and accelerated by our neuromorphic hardware created in previous work. Main results. When driven by correlated sensory inputs, the crosstalk synapses gained weight and produced prominent motor overflow; the growth of crosstalk synapses resulted in enlarged sensory representation reflecting cortical reorganization. The overflow failed to recede when the inputs resumed their original uncorrelated statistics. In the control group, no motor overflow was observed. Significance. Although our model is a highly simplified and limited representation of the human sensorimotor system, it allows us to explain how correlated sensory input to anatomically distinct muscles is by itself sufficient to cause persistent and irreversible motor overflow. Further studies are needed to locate the source of correlation in sensory input.

  11. Early deep brain stimulation in patients with myoclonus-dystonia syndrome.

    Science.gov (United States)

    Rocha, Helena; Linhares, Paulo; Chamadoira, Clara; Rosas, Maria José; Vaz, Rui

    2016-05-01

    Myoclonus-dystonia (MD) is a rare movement disorder which is disabling and frequently refractory to medical treatment. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been used to treat some patients. Although there is significant motor improvement with DBS, the impact on disability and on quality of life has been infrequently reported. Also, the benefit of the procedure is not established in patients without ε-sarcoglycan gene (SGCE) mutations. We present two patients with severe MD treated with GPi-DBS, one of the patients without a SGCE mutation. Motor improvements (rest/action/total subscores of the Unified Myoclonus Rating Scale and movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale [BFMRS]) and disability (BFMRS disability subscore) were carefully evaluated preoperatively and at 6 and 12months after surgery. Quality of life (addressed using the Portuguese version of the Medical Outcomes Study 36-item Short-Form General Health Survey, version 2.0 [SF-36v2]) was tested preoperatively and 12months after DBS. At 12-month follow-up, myoclonus improved 78.6% in Patient 1 and 80.7% in Patient 2, while dystonia improved 37% and 86.7%, respectively. Improvements in disability ranged from 71.4% to 75%. With regard to quality of life, all parameters addressed by the SF-36v2 improved or stabilized in both patients. No major adverse effects were noticed. Improvements in motor symptoms are consistent with reports in the literature and were obtained regardless of the identification of a SGCE gene mutation. There were also significant benefits on disability and quality of life. DBS should be considered for MD.

  12. Altered Sensory Feedbacks in Pianist's Dystonia: the altered auditory feedback paradigm and the glove effect

    Directory of Open Access Journals (Sweden)

    Felicia Pei-Hsin Cheng

    2013-12-01

    Full Text Available Background: This study investigates the effect of altered auditory feedback (AAF in musician's dystonia (MD and discusses whether altered auditory feedback can be considered as a sensory trick in MD. Furthermore, the effect of AAF is compared with altered tactile feedback, which can serve as a sensory trick in several other forms of focal dystonia. Methods: The method is based on scale analysis (Jabusch et al. 2004. Experiment 1 employs synchronization paradigm: 12 MD patients and 25 healthy pianists had to repeatedly play C-major scales in synchrony with a metronome on a MIDI-piano with 3 auditory feedback conditions: 1. normal feedback; 2. no feedback; 3. constant delayed feedback. Experiment 2 employs synchronization-continuation paradigm: 12 MD patients and 12 healthy pianists had to repeatedly play C-major scales in two phases: first in synchrony with a metronome, secondly continue the established tempo without the metronome. There are 4 experimental conditions, among them 3 are the same altered auditory feedback as in Experiment 1 and 1 is related to altered tactile sensory input. The coefficient of variation of inter-onset intervals of the key depressions was calculated to evaluate fine motor control. Results: In both experiments, the healthy controls and the patients behaved very similarly. There is no difference in the regularity of playing between the two groups under any condition, and neither did AAF nor did altered tactile feedback have a beneficial effect on patients’ fine motor control. Conclusions: The results of the two experiments suggest that in the context of our experimental designs, AAF and altered tactile feedback play a minor role in motor coordination in patients with musicians' dystonia. We propose that altered auditory and tactile feedback do not serve as effective sensory tricks and may not temporarily reduce the symptoms of patients suffering from MD in this experimental context.

  13. [Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings].

    Science.gov (United States)

    Uyama, E; Terasaki, T; Owada, M; Naito, M; Araki, S

    1990-08-01

    GM1-gangliosidosis is a rare neurovisceral storage disease caused by an inherited deficiency of acid beta-galactosidase. The characteristic neurological feature of type 3 (adult or chronic) GM1-gangliosidosis is usually a slowly progressive dystonia with dysarthria due to predominant involvement of basal ganglia. About 20 adult patients with this disorder have been reported in the literature. However, there are no reports of 3 brothers with type 3 GM1-gangliosidosis, and MRI findings. Case 1 (proband): A 28-year-old man was hospitalized because of facial grimace, dysarthria, and generalized dystonia. He was born after normal pregnancy and delivery. His development was normal until 3 years of age when the difficulties of speaking and walking were noticed by his parents. These neurological abnormalities progressed slowly and facial grimace and dystonic movements occurred 7 years later. He could not walk at 22 years of age. On admission, he was bedridden with marked scoliosis and subluxation of the mandibule. The communication was possible only by pointing the words written on the board. Case 2: A 33-year-old man, elder brother of case 1, showed the similar neurological features and clinical course. Slit-lamp examination revealed corneal opacities which were located in the deep stroma. Case 3: A 33-year-old man, elder brother of case 1 or case 2. At age 10-11, he noted similar symptoms as case 1 or case 2. The severity of dystonia was milder than his brothers. A diagnosis of GM1-gangliosidosis in three patients was made on the basis of the following data.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia

    Directory of Open Access Journals (Sweden)

    Casellato Claudia

    2012-07-01

    Full Text Available Abstract Background Robot-generated deviating forces during multijoint reaching movements have been applied to investigate motor control and to tune neuromotor adaptation. Can the application of force to limbs improve motor learning? In this framework, the response to altered dynamic environments of children affected by primary dystonia has never been studied. Methods As preliminary pilot study, eleven children with primary dystonia and eleven age-matched healthy control subjects were asked to perform upper limb movements, triangle-reaching (three directions and circle-writing, using a haptic robot interacting with ad-hoc developed task-specific visual interfaces. Three dynamic conditions were provided, null additive external force (A, constant disturbing force (B and deactivation of the additive external force again (C. The path length for each trial was computed, from the recorded position data and interaction events. Results The results show that the disturbing force affects significantly the movement outcomes in healthy but not in dystonic subjects, already compromised in the reference condition: the external alteration uncalibrates the healthy sensorimotor system, while the dystonic one is already strongly uncalibrated. The lack of systematic compensation for perturbation effects during B condition is reflected into the absence of after-effects in C condition, which would be the evidence that CNS generates a prediction of the perturbing forces using an internal model of the environment. The most promising finding is that in dystonic population the altered dynamic exposure seems to induce a subsequent improvement, i.e. a beneficial after-effect in terms of optimal path control, compared with the correspondent reference movement outcome. Conclusions The short-time error-enhancing training in dystonia could represent an effective approach for motor performance improvement, since the exposure to controlled dynamic alterations induces a refining

  15. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1

    DEFF Research Database (Denmark)

    Hjermind, L.E.; Vissing, J.; Asmus, F.;

    2008-01-01

    Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very...... homologous and may substitute for one-another in different tissues. We therefore investigated whether mutations in SGCE also cause abnormalities of skeletal and myocardial muscle. Six patients with clinically and genetically verified M-D and no signs of limb-girdle muscular dystrophy were included. Skeletal...

  16. Arm Posturing in a Patient Following Stroke: Dystonia, Levitation, Synkinesis, or Spasticity?

    Science.gov (United States)

    Irmady, Krithi; Jabbari, Bahman; Louis, Elan D

    2015-01-01

    Post-stroke movement disorders occur in up to 4% of stroke patients. The movements can be complex and difficult to classify, which presents challenges when attempting to understand the clinical phenomenology and provide appropriate treatment. We present a 64-year-old male with an unusual movement in the arm contralateral to his ischemic stroke. The primary feature of the movement was an involuntary elevation of the arm, occurring only when he was walking. The differential diagnosis includes dystonia, spontaneous arm levitation, synkinesis, and spasticity. We discuss each of these diagnostic possibilities in detail.

  17. Disturbed moving patterns when drumming - influence of extreme tempi on percussionists with and without focal dystonia

    DEFF Research Database (Denmark)

    Dahl, Sofia; Altenmüller, Eckart

    , studying the movements of percussionists offers a promising method of comparing healthy and disturbed moving patterns for individual players. 2. AIMS: To investigate the influence of nominal tempo on movement pattern and timing variability for healthy percussionists and those suffering from focal dystonia......: At this early stage, the results should not be generalized. However, this type of research could provide valuable insights in how movement patterns change in response to more demanding playing conditions. Such knowledge would have important implications for music teaching and education....

  18. Alterations in cerebellar glutamic acid decarboxylase (GAD) activity in a genetic model of torsion dystonia (rat).

    Science.gov (United States)

    Oltmans, G A; Beales, M; Lorden, J F; Gordon, J H

    1984-07-01

    Glutamic acid decarboxylase (GAD) activity was studied in specific brain regions of a newly identified genetic (rat) model of human torsion dystonia. GAD activity was found to be significantly increased in the deep cerebellar nuclei of dystonic rats at 16, 20, and 24 days of age. GAD activity in the other regions examined (vermis, cerebellar hemispheres, caudate nucleus, and globus pallidus) did not differ from that of age-matched normal littermate controls. Diazepam treatment significantly reduced the frequency of dystonic movements in the mutant.

  19. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.

    Science.gov (United States)

    Maréchal, Lucie; Raux, Grégory; Dumanchin, Cécile; Lefebvre, Guillaume; Deslandre, Emmanuelle; Girard, Carole; Campion, Dominique; Parain, Dominique; Frebourg, Thierry; Hannequin, Didier

    2003-05-15

    Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.

  20. Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A

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    Vinod Rai

    2013-01-01

    Full Text Available We report a rare case of neurodegeneration with brain iron accumulation (NBIA presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech. MRI brain showed "Eye of Tiger" sign. He recently developed severe inspiratory stridor associated with almost gasping respiration. Direct video laryngoscopy showed paradoxical vocal cord closure during inspiration. He was treated with EMG-guided botulinum toxin-A injection given into bilateral thyroarytenoid muscles, resulting in dramatic response with complete disappearance of the stridor within a week. The effect lasted 18 months.

  1. An elderly female patient with tardive oromandibular dystonia after prolonged use of the histamine analog betahistine.

    Science.gov (United States)

    De Riu, G; Sanna, M P; De Riu, P L

    2010-10-01

    Tardive oromandibular dystonia (OMD) is iatrogenic in origin and is characterised by orofacial and lingual stereotypes more frequently than the idiopathic form of OMD Tardive OMD is often associated with anti-dopaminergic treatment involving drugs such as anti-psychotics, anti-emetics, and anti-vertigo agents, although the syndrome can also be triggered by anti-epileptic or anti-depressant drugs that do not have anti-dopaminergic properties. We report an elderly female patient with OMD after prolonged, self-administered treatment with betahistine dihydrochloride, a histamine analogue.

  2. What parents think and feel about deep brain stimulation in paediatric secondary dystonia including cerebral palsy: A qualitative study of parental decision-making.

    Science.gov (United States)

    Austin, Allana; Lin, Jean-Pierre; Selway, Richard; Ashkan, Keyoumars; Owen, Tamsin

    2017-01-01

    Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored. To explore parental decision-making for DBS in paediatric secondary dystonia. Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS. Interviews were analysed using Interpretative Phenomenological Analysis. For all parents the decision was viewed as significant, with life altering consequences for the child. These results suggested that parents were motivated by a hope for a better life and parental duty. This was weighed against consideration of risks, what the child had to lose, and uncertainty of DBS outcome. Decisions were also influenced by the perspectives of their child and professionals. The decision to undergo DBS was an ongoing process for parents, who ultimately were struggling in the face of uncertainty whilst trying to do their best as parents for their children. These findings have important clinical implications given the growing referrals for consideration of DBS childhood dystonia, and highlights the importance of further quantitative research to fully establish the efficacy of DBS in secondary dystonia to enhance informed decision-making. Copyright © 2016. Published by Elsevier Ltd.

  3. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy.

    Science.gov (United States)

    Neville, B G; Besag, F M; Marsden, C D

    1998-08-01

    This paper describes a 20 year old woman with a new combination of neurological impairments in which the motor phenomena were responsive to corticosteroid treatment. She had lifelong moderate learning impairment. A variable ataxia with cerebellar characteristics was present from early life, with early severe exacerbation when seizures were uncontrolled. Atypical absence and simple and complex partial seizures were present from the first year of life and EEG abnormalities were maximal in the right parietal region, concordant with a mild non-specific abnormality of the white matter in the region of the trigone. Episodes of alternating hemiplegia occurred from 11 years, unassociated with seizures. Exercise induced dystonia occurred from the age of 5. After 10-20 minutes walking, her right foot would turn in and the right leg would stiffen, followed by the left and by falling and inability to get up for several minutes. Prednisolone improved her ataxia and was associated with cessation of both seizures and exercise induced dystonia. This adds a new syndrome to the corticosteroid responsive motor disorders associated with epilepsy.

  4. Mixed effectiveness of rTMS and retraining in the treatment of focal hand dystonia

    Science.gov (United States)

    Kimberley, Teresa J.; Schmidt, Rebekah L. S.; Chen, Mo; Dykstra, Dennis D.; Buetefisch, Cathrin M.

    2015-01-01

    Though the pathophysiology of dystonia remains uncertain, two primary factors implicated in the development of dystonic symptoms are excessive cortical excitability and impaired sensorimotor processing. The aim of this study was to determine the functional efficacy of an intervention combining repetitive transcranial magnetic stimulation (rTMS) and sensorimotor retraining. A randomized, single-subject, multiple baseline design with crossover was used to examine participants with focal hand dystonia (FHD) (n = 9). Intervention: 5 days rTMS + sensorimotor retraining (SMR) vs. Five days rTMS + control therapy (CTL) (which included stretching and massage). The rTMS was applied to the premotor cortex at 1 Hz at 80% resting motor threshold for 1200 pulses. For sensorimotor retraining, a subset of the Learning-based Sensorimotor Training program was followed. Each session in both groups consisted of rTMS followed immediately by 30 min of the therapy intervention (SMR or CTL). Contrary to our hypothesis, group analyses revealed no additional benefit from the SMR training vs. CTL. When analyzed across group however, there was significant improvement from the first baseline assessment in several measures, including tests of sensory ability and self-rated changes. The patient rated improvements were accompanied by a moderate effect size suggesting clinical meaningfulness. These results provide encouragement for further investigation of rTMS in FHD with a need to optimize a secondary intervention and determine likely responders vs. non-responders. PMID:26217209

  5. Rechargeable or Nonrechargeable Deep Brain Stimulation in Dystonia: A Cost Analysis.

    Science.gov (United States)

    Perez, Jerome; Gonzalez, Victoria; Cif, Laura; Cyprien, Fabienne; Chan-Seng, Emilie; Coubes, Philippe

    2017-04-01

    Deep brain stimulation of the internal Globus Pallidus (GPi DBS) delivered by an implantable neurostimulator (INS) is an established, effective, and safe treatment option for patients with medically refractory primary dystonia. Compared to other DBS targets, the battery life of the INS is substantially shorter due to the higher energy demands required to penetrate the GPi resulting in faster battery depletion and more frequent hospitalizations for INS replacement. We, therefore, performed a cost analysis to compare a rechargeable DBS system, Activa®RC, with nonrechargeable systems, from the perspective of the French public health insurer. To estimate the cost of INS replacement in the nonrechargeable cohort, and costs potentially avoided in the hypothetical Activa(®) RC cohort, the medical records of patients who had undergone GPi DBS with a nonrechargeable INS between 1996 and 2010 at a center in France were accessed. Replacement rates were estimated for up to nine years. With Activa(®) RC, a total of 315 hospitalizations for replacement procedures would have been avoided over nine years compared with a nonrechargeable INS, resulting in a discounted mean direct medical cost per patient over nine years of €50,119 with a nonrechargeable INS and €33,306 with Activa(®) RC, a reduction of 34%. The adoption of a rechargeable instead of a nonrechargeable INS for eligible patients with dystonia may provide substantial savings to the public health insurer in France. © 2017 International Neuromodulation Society.

  6. Comparing health locus of control in patients with Spasmodic Dysphonia, Functional Dysphonia and Nonlaryngeal Dystonia.

    Science.gov (United States)

    Haselden, Karen; Powell, Theresa; Drinnan, Mike; Carding, Paul

    2009-11-01

    Locus of Control (LoC) refers to an individuals' perception of whether they are in control of life events. Health Locus of Control refers to whether someone feels they have influence over their health. Health Locus of Control has not been studied in any depth in voice-disordered patients. The objective of this study was to examine Health Locus of Control in three patient groups: (1) Spasmodic Dysphonia, (2) Functional Dysphonia and (3) a nondysphonic group with Nonlaryngeal Dystonia. LoC was measured and compared in a total of 57 patients using the Multidimensional Health Locus of Control Scales (diagnostic specific) Form C. Internal, Chance, and Powerful others LoC were measured and comparisons were made using one-way analysis of variance. Contrary to expectations Internal LoC was found to be significantly higher in the Functional Dysphonia group when compared to the other two groups. There was no significant difference between the groups in Chance or Powerful others LoC. The two organic groups, Spasmodic Dysphonia and Nonlaryngeal Dystonia, were more alike in Internal Health Locus of Control than the Functional Dysphonia group. The diagnostic nature of the groups was reflected in their LoC scores rather than their voice loss. These results contribute to the debate about the etiology of Spasmodic Dysphonia and will be of interest to those involved in the psychology of voice and those managing voice-disordered patients.

  7. Effectiveness of rTMS and retraining in the treatment of focal hand dystonia

    Directory of Open Access Journals (Sweden)

    Teresa Jacobson Kimberley

    2015-07-01

    Full Text Available Though the pathophysiology of dystonia remains uncertain, two primary factors implicated in the development of dystonic symptoms are excessive cortical excitability and impaired sensorimotor processing. The aim of this study was to determine the functional efficacy of a sensorimotor intervention combining rTMS and sensorimotor retraining. A randomized, single-subject, multiple baseline design with crossover was used to examine participants with focal hand dystonia (FHD (n=9. Intervention: 5 days rTMS + sensorimotor retraining (SMR vs. 5 days rTMS + control therapy (CTL (which included stretching and massage. The rTMS was applied to the premotor cortex at 1 Hz at 80% resting motor threshold for 1200 pulses. For sensorimotor retraining, a subset of the Learning-based Sensorimotor Training program was followed. Each session consisted of rTMS followed immediately by 30 minutes of the therapy intervention (SMR or CTL. Group analyses revealed no additional benefit from the SMR training vs CTL, which was contrary to our hypothesis. When analyzed across group however, there was significant improvement from first baseline in several measures, including tests of sensory ability and self-rated changes. The patient rated improvements were accompanied by a moderate effect size suggesting clinical meaningfulness. These results provide encouragement for further investigation of rTMS in FHD with a need to optimized a secondary intervention and determine likely responders vs. non-responders.

  8. What we can learn about hereditary dystonia from HSDI of the glottis

    Science.gov (United States)

    Pedersen, Mette; Eeg, Martin

    2012-02-01

    This study examined efficacy of the innate immune defence via the mannose binding lectin (MBL) in a cohort of 55 dystonic patients prospectively referred to the clinic with laryngeal mucosal complaints, who were placed on local steroids (budesonid inhaler, 400 μg 2 times daily) and antihistamines (fexofenadin 180 mg mostly 3 times daily) with adjuvant lifestyle corrections. Treatment efficacy of the larynx was assessed based on mucosal findings of the vocal folds examined with High speed mucosa studies comprising simultaneous high speed digital imagines (HSDI), kymography, electroglottography (EGG) and voice acoustics combined with a visual score of arytenoids oedema, as these measures are indicative of the magnitude of laryngitis. Lactose and gluten intolerance and immunological analyses of the innate system were made systematically. Results showed that the genetic aspects of immunology did not reveal a role for the innate immune system, represented by the mannose binding lectin (MBL). An unexpected positive effect of the larynx treatment on dystonia symptoms was found evidenced by reduction of dystonic complaints and more normative results of High speed mucosa, and a reduction of oedema of the inter arytenoids region. Symptoms relieve and better quality of life was observed on follow up for the dystonia complaints.

  9. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

    Science.gov (United States)

    Wang, Kang; Takahashi, Yuji; Gao, Zong-Liang; Wang, Guo-Xiang; Chen, Xian-Wen; Goto, Jun; Lou, Jin-Ning; Tsuji, Shoji

    2009-10-01

    Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G>A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G>A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.

  10. Changes in the relationship between movement velocity and movement distance in primary focal hand dystonia.

    Science.gov (United States)

    Prodoehl, Janey; Corcos, Daniel M; Leurgans, Sue; Comella, Cynthia L; Weis-McNulty, Annette; MacKinnon, Colum D

    2008-07-01

    The authors examined the relationship between movement velocity and distance and the associated muscle activation patterns in 18 individuals with focal hand dystonia (FHD) compared with a control group of 18 individuals with no known neuromuscular condition. Participants performed targeted voluntary wrist and elbow flexion movements as fast as possible across 5 movement distances. Individuals with FHD were slower than controls across all distances, and this difference was accentuated for longer movements. Muscle activation patterns were triphasic in the majority of individuals with FHD, and muscle activation scaled with distance in a similar manner to controls. Cocontraction did not explain movement slowing in individuals with dystonia, but there was a trend toward underactivation of the 1st agonist burst in the dystonic group. The authors concluded that slowness is a consistent feature of voluntary movement in FHD and is present even in the absence of dystonic posturing. Underactivation of the 1st agonist burst appears to be the most likely reason to explain slowing.

  11. [A boy with nystagmus, refractory dystonia and apneic attack due to alternating hemiplegia of childhood].

    Science.gov (United States)

    Shiota, Naoki; Shimono, Masayuki; Tomioka, Shiho; Takano, Kenichi; Kato, Ayako; Kawakami, Akihiro; Ishizuka, Takehiro

    2007-07-01

    We herein report the findings of a 2-year-6-month-old boy, who had been experiencing monocular pendular nystagmus, strabismus, and episodic eye deviation nystagmus, intractable dystonia and apneic attack which all began when he was 2 days of age. He underwent a complete blood count test, blood chemistry test, analysis of amino acids in the blood and urine, analysis of pyruvate/lactate in blood and cerebrospinal fluid, head computed tomography and magnetic resonance imaging and no abnormal results were identified. His attacks were resistant to multiple antiepileptic and dopaminergic drugs. He showed transient left and/or right hemiplegia after nystagmus, dystonia and/or apneic attacks at 8-months of age with retardation in intelligence. We diagnosed him to have alternating hemiplegia of childhood (AHC). We were unsure how to deal with his attacks after he was discharged from the hospital, however, resuscitation with the ambu bag by his mother at home and the intravenous infusion of diazepam or thiamylal at the hospital together was proven to be an effective method for treating his severe apneic attacks. The effect of diazepam and amantadine on these attacks was transient, however, the administration of flunarizine with amantadine resulted in an improvement in his attacks. We therefore consider the administration of flunarizine to be essential for the effective treatment of AHC in this case.

  12. Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

    Science.gov (United States)

    Opladen, Thomas; Hoffmann, Georg F; Kühn, Andrea A; Blau, Nenad

    2013-03-01

    Phenylalanine (Phe) loading test is a useful tool in the differential diagnosis of dopa-responsive dystonia due to autosomal dominant or recessive GTP cyclohydrolase I (GTPCH) deficiency or autosomal recessive sepiapterin reductase (SR) deficiency. In these patients hepatic phenylalanine hydroxylase system is compromised due to subnormal tetrahydrobiopterin (BH(4)) levels and hydroxylation of phenylalanine (Phe) to tyrosine (Tyr) is reduced with elevated Phe/Tyr ratio 1-2 h after oral Phe administration (100 mg/kg bw) administration. In healthy persons there is only a modest increase in Tyr production and blood Phe normalizes after 4 h. We report on a challenge with Phe (100 mg/kg bw) in a patient with dopa-responsive dystonia while on therapy with BH(4) and l-dopa. During Phe challenge Phe concentration remained below the normal range while a transient mild hypertyrosinemia was observed, leading to an extremely low Phe/Tyr ratio. A repeated test, after BH(4) withdrawal, reversed the findings and resulted normal. These data suggest activation of hepatic phenylalanine hydroxylase by BH(4). Thus, the Phe loading test should not be performed during substitution with BH(4).

  13. Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas

    Directory of Open Access Journals (Sweden)

    Godani M

    2015-05-01

    Full Text Available Massimiliano Godani,1 Francesca Canavese,1 Sonia Migliorini,2 Massimo Del Sette1 1Neurology Unit, 2Department of Neuroradiology, Sant’Andrea Hospital, La Spezia, Italy Abstract: The practice of inhaling liquefied petroleum gas (LPG to commit suicide is uncommon and almost exclusively a prerogative of the prison population. Numerous cases of sudden deaths caused by intentional propane and/or butane inhalation have been described, but these cases survived and a description of the consequences is very rare. We describe a prisoner who survived after voluntary inhalation of LPG, and who developed ataxia, Parkinsonism, and dystonia. Brain MRI showed bilateral hyperintensity in the basal ganglia and in the cerebellar hemispheres. The clinical evolution and the MRI abnormalities are similar to those described in cases of poisoning by CO where the mechanism of brain injury is related to histotoxic hypoxia. We believe that LPG, considered until now a mixture of gas with low neurotoxic power, may have caused direct toxic damage to the brain, mediated by a mechanism of hypoxia, such as in CO intoxication. Keywords: ataxia, Parkinsonism, dystonia, liquefied petroleum gas

  14. Clinical Practice: Evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin

    Science.gov (United States)

    Contarino, Maria Fiorella; Van Den Dool, Joost; Balash, Yacov; Bhatia, Kailash; Giladi, Nir; Koelman, Johannes H.; Lokkegaard, Annemette; Marti, Maria J.; Postma, Miranda; Relja, Maja; Skorvanek, Matej; Speelman, Johannes D.; Zoons, Evelien; Ferreira, Joaquim J.; Vidailhet, Marie; Albanese, Alberto; Tijssen, Marina A. J.

    2017-01-01

    Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many issues still remain open in the clinical practice. We performed a systematic review of the literature on botulinum toxin treatment for CD based on a question-oriented approach, with the aim to provide practical recommendations for the treating clinicians. Key questions from the clinical practice were explored. Results suggest that while the beneficial effect of botulinum toxin treatment on different aspects of CD is well established, robust evidence is still missing concerning some practical aspects, such as dose equivalence between different formulations, optimal treatment intervals, treatment approaches, and the use of supportive techniques including electromyography or ultrasounds. Established strategies to prevent or manage common side effects (including excessive muscle weakness, pain at injection site, dysphagia) and potential contraindications to this treatment (pregnancy and lactation, use of anticoagulants, neurological comorbidities) should also be further explored. PMID:28286494

  15. Distonia psicogênica: relato de dois casos Psychogenic dystonia: report of two cases

    Directory of Open Access Journals (Sweden)

    ANTONIO PEDRO VARGAS

    2000-06-01

    Full Text Available Desordens de movimento raramente podem ser devidas a distúrbios psiquiátricos. A distonia psicogênica caracteriza-se pela inconsistência dos achados, presença de fatores precipitantes, manifestar-se inicialmente nos membros inferiores, associar-se a dor, a outros movimentos anormais incaracterísticos e a somatizações múltiplas. Descrevemos duas pacientes com diagnóstico de distonia psicogênica clinicamente estabelecida. Paciente 1, feminina, apresentou episódio súbito de perda de força dos quatro membros, evoluiu com distonia nos pés, laterocolo alternante, tremor generalizado, irregular, e hipertonia dos membros inferiores que desapareciam a distração; a avaliação psicológica evidenciou depressão, hipocondria, transtorno obsessivo. Paciente 2, feminina, há nove anos começou a ter tremor irregular nos membros inferiores, que desaparecia com a distração, e distonia no pé esquerdo associada a dor; progressivamente perdeu a marcha; a avaliação psicológica revelou comportamento infantilizado, com baixa tolerância a frustração, impulsividade e auto-agressão. Os exames complementares de ambas não mostraram alterações e a resposta ao tratamento farmacológico foi nula. Distonia raramente é de origem psicogênica. A inconstância e a incongruência com o quadro clássico, associadas a outras somatizações ou a distúrbios psiquiátricos, sugerem o diagnóstico.Movement disorders have rarely been the result of psychiatric disturbances. Psychogenic dystonia is caracterized by inconsistent findings, a known precipitant factor, onset in legs, pain , multiple somatizations and incongruent association with other movement disorders. We report two patients with clinically established psychogenic dystonia. Patient 1: a female that presented sudden loss of strength in her four limbs; she developed feet dystonia, alternant laterocollis, generalized and irregular tremor, and limb hypertonia that disappeared with distraction

  16. Cerebellum-dependent associative learning deficits in primary dystonia are normalized by rTMS and practice

    NARCIS (Netherlands)

    Hoffland, B.S.; Kassavetis, P.; Bologna, M.; Teo, J.T.; Bhatia, K.P.; Rothwell, J.C.; Edwards, MJ; Warrenburg, B.P.C. van de

    2013-01-01

    Eyeblink classical conditioning (EBCC) is a cerebellum-dependent paradigm of associative motor learning, and abnormal EBCC is a neurophysiological indicator of cerebellar dysfunction. We have previously demonstrated impaired EBCC in patients with primary dystonia, but it remains uncertain if this re

  17. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

    NARCIS (Netherlands)

    Wortmann, S.B.; Vaz, F.M.; Gardeitchik, T.; Vissers, L.E.L.M.; Renkema, G.H.; Schuurs-Hoeijmakers, J.H.M.; Kulik, W.; Lammens, M.M.Y.; Christin, C.; Kluijtmans, L.A.J.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Grunewald, A.; Klein, C.; Gerhold, J.M.; Kozicz, T.L.; Hasselt, P.M. van; Harakalova, M.; Kloosterman, W.; Baric, I.; Pronicka, E.; Ucar, S.K.; Naess, K.; Singhal, K.K.; Krumina, Z.; Gilissen, C.F.H.A.; Bokhoven, J.H.L.M. van; Veltman, J.A.; Smeitink, J.A.M.; Lefeber, D.J.; Spelbrink, J.N.; Wevers, R.A.; Morava, E.; Brouwer, A.P.M. de

    2012-01-01

    Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. We localized SERAC1 at the interface between the mitochondria and the endo

  18. Cervical dystonia : effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

    NARCIS (Netherlands)

    van den Dool, Joost; Visser, Bart; Koelman, J. Hans T. M.; Engelbert, Raoul H. H.; Tijssen, Marina A. J.

    2013-01-01

    Background: Cervical dystonia is characterized by involuntary muscle contractions of the neck and abnormal head positions that affect daily life activities and social life of patients. Patients are usually treated with botulinum toxin injections into affected neck muscles to relief pain and improve

  19. Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results

    NARCIS (Netherlands)

    Lenders, Mathieu W.; Vergouwen, Mervyn D.; Hageman, Gerard; Hoek, van der Joffrey A.; Ippel, Elly F.; Jansen Steur, Ernst N.; Buschman, Hendrik P.J.; Hariz, Marwan

    2006-01-01

    We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinical features are (1) childhood-onset; (2) extrapyramidal motor symptoms; (3) dysarthria; and (4) mental retardation. Additional findings include loss of D2-receptors in both basal ganglia and hypoplasia

  20. Combined Anterior and Posterior Lumbar Rhizotomy for Treatment of Mixed Dystonia and Spasticity in Children With Cerebral Palsy

    Science.gov (United States)

    Nada, Mohamed; Mahran, Mahmoud A.; Aboud, Ahmed; Mahran, Moustafa G.; Nasef, Marwa A.A.; Gaber, Mohamed; Sabry, Tamer; Ibrahim, Mohamed H.; Taha, Mohamed H.

    2016-01-01

    BACKGROUND: Children with cerebral palsy (CP) can present with severe secondary dystonia with or without associated spasticity of their extremities. OBJECTIVE: To assess the outcomes of combined anterior and posterior lumbar rhizotomy for the treatment of mixed hypertonia in the lower extremities of children with CP. METHODS: Fifty children with CP were subjected to combined anterior and posterior lumbar rhizotomies in a prospective study. Clinical outcome measurements were recorded preoperatively and were evaluated at 2, 6, and 12 months postoperatively. The operative techniques were performed by laminotomy from L1-S1, and intraoperative monitoring was used in all cases. All patients underwent intensive postoperative physiotherapy programs. RESULTS: Changes in muscle tone, joint range of motion, and dystonia were significant (P = .000) at postoperative assessment visits. CONCLUSION: This study demonstrated the potential of combined anterior and posterior lumbar rhizotomies to improve activities of daily living in children with CP and with mixed spasticity and dystonia. ABBREVIATIONS: BAD, Barry-Albright Dystonia Scale CAPR, combined anterior and posterior lumbar rhizotomy CP, cerebral palsy ITB, intrathecal baclofen MAS, modified Ashworth Scale ROM, range of motion SDR, selective dorsal rhizotomy PMID:27244465

  1. Cervical dystonia : effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

    NARCIS (Netherlands)

    van den Dool, Joost; Visser, Bart; Koelman, J. Hans T. M.; Engelbert, Raoul H. H.; Tijssen, Marina A. J.

    2013-01-01

    Background: Cervical dystonia is characterized by involuntary muscle contractions of the neck and abnormal head positions that affect daily life activities and social life of patients. Patients are usually treated with botulinum toxin injections into affected neck muscles to relief pain and improve

  2. The course of tardive dystonia in Afro Caribbean patients, a population-based study - The Curacao Extrapyramidal Syndromes Study : VII

    NARCIS (Netherlands)

    van Harten, P. N.; Matroos, G. E.; Van Os, J.

    2008-01-01

    Tardive dystonia (TDt) is a severe side effect of long-term use of antipsychotics. Previous publications suggested that TDt persist but the results are distorted by referral bias. In a population-based nine-year follow-up study (one baseline, six follow-ups) of chronic psychiatric patients (N=194) o

  3. THE PROPERTIES AND LONGITUDINAL EXPERIENCE OF CHINESE TYPE A BOTULINUM TOXIN FOR THE TREATMENT OF FOCAL DYSTONIA AND HEMIFACIAL SPASM

    Institute of Scientific and Technical Information of China (English)

    万新华; 汤晓芙; 王荫椿

    2003-01-01

    Objective. To introduce the properties of Chinese type A botulinum toxin (CBTXA, made by Lanzhou Institute of Biological Products), and its long-term effect for focal dystonia and hemifacial spasm. Method. The purity and recovery of crude and crystalline toxin were tested. Long-term data from 305 patients with hemifacial spasm (HFS), blepharospasm (BS) and cervical dystonia (CD) were evaluated and subgroups of patients received CBTXA injections between 1994 and 2000 in at least six separate treatment sessions, with follow up for 2-8 years. The therapeutic results of the last session CBTXA injections were analyzed in comparison with the first session. Result. CBTXA purity was high[(2.55~2.60)×107D50/mgPr, A260/A280 ≤0.55, high molecular substance accounted for 99.2% of total proteins]. Long term treatment with CBTXA in patients with focal dystonia and HFS was not associated with any decline in benefit, and efficacy may improve slightly with repeat treatments. CBTXA is an excellent long-term treatment of HFS, BS and CD. Conchusion. We conclude that Chinese type A botulinum toxin is of botulinum toxin therapy quality standard according to results obtained from the basic study and long-term clinical applications. The reinjection of CBTXA significantly improves the quality of life of most patients and is a safe, effective and comparatively economical treatment for patients with focal dystonia and HFS.

  4. Botulinum toxin as treatment for focal dystonia : a systematic review of the pharmaco-therapeutic and pharmaco-economic value

    NARCIS (Netherlands)

    Zoons, E.; Dijkgraaf, M. G. W.; Dijk, J. M.; van Schaik, I. N.; Tijssen, M. A.

    2012-01-01

    Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the pharm

  5. The treatment of focal dystonia and muscle spasm with Botox and CBTX-A

    Institute of Scientific and Technical Information of China (English)

    Tang Xiaofu; Wan Xinhua; Huang Guang

    2000-01-01

    Objective To confirm and compare the therapeutic efficacies of CBTX-A (made by Lanzhou Biological Products Institute, China) and Botox (from Allergan Inc, US) for focal dystonia and other neurological disorders characterized by involuntary or abnormal muscle contractions. Methods We treated 785 patients with medically intractable focal dystonia and muscle spasm in two groups, 192 cases with Botox and 593 cases with CBTX-A. A total of 1393 treatments were given over a 4-year period. The results of a prospective open study were analyzed. Results Considerable improvement of symptoms was observed in all patients but 11 (1.4%)with either Botox or CBTX-A, 30.4% were rated as excellent, 57.8% as marked improvement, 8.9% as moderate improvement. The side effects were usually minor and transient. The most concerned complications after injections were ptosis and dysphagia. There was no significant difference in the clinical effects between this two kinds off preparation, including the latency of response, maximal benefit, duration of improvement. Patients' subjective assessments were similar too. But the requested dose of Chinese preparation which produced the similar effects was statistically higher than that of Botox; and skin rash appeared within a few days after injections in 5 cases of CBTX-A group, while none of Botox group, no statistical differences in the other adverse reaction between them. Treatment was needed to repeat in most patients to maintain the effects. The pretreatment scores of the reinjection were slightly lower. Moreover, a progressive reduction in posttreatment scores was observed in HFS and CD, with the latency of response, duration ofimprovement and doses unchanged or doses lower than the initial one. Conclusion The injections of both two kinds of preparation were simple and effective out-patient treatment for the patients with focal dystonia and muscle spasm. Chinese preparation is a little less powerful but much cheaper than Botox. Although a few

  6. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

    NARCIS (Netherlands)

    Tuschl, K.; Clayton, P.T.; Gospe Jr, S.M.; Gulab, S.; Ibrahim, S.; Singhi, P.; Aulakh, R.; Ribeiro, R.T.; Barsottini, O.G.; Zaki, M.S.; Rosario, M.L. Del; Dyack, S.; Price, V.; Rideout, A.; Gordon, K.; Wevers, R.A.; Chong, W.K.; Mills, P.B.

    2012-01-01

    Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dystonia,

  7. "ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia

    Science.gov (United States)

    Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie

    2012-01-01

    We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the "ATP1A3" gene. In adults, mutations in "ATP1A3" cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and…

  8. "ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia

    Science.gov (United States)

    Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie

    2012-01-01

    We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the "ATP1A3" gene. In adults, mutations in "ATP1A3" cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and…

  9. Acetylcholinesterase activity in the brain of dystonia musculorum (Dst(dt-J)) mutant mice.

    Science.gov (United States)

    Clément, C; Lalonde, R; Strazielle, C

    2012-01-01

    The dystonia musculorum (Dst(dt-J)) mutant mouse suffers from severe motor coordination deficits, characterized, among various symptoms, by a spastic ataxia and dystonic movements, indicating central defects in motor structures in addition to dystrophy of peripheral sensory tracts and partial degeneration of spinocerebellar tracts. Neurochemical alterations, notably in dopaminergic and noradrenergic systems, were previously observed in basal ganglia and cerebellum. A quantitative histochemical cartography of brain acetylcholinesterase activity in Dst(dt-J) mutants, in comparison with controls, revealed increases in the neostriatum, the habenula-interpeduncular pathway, the cholinergic pedunculopontine nucleus and its target structures, the thalamus, major regions of the basal ganglia, such as substantia nigra, ventral tegmental area, globus pallidum, and subthalamic nucleus, as well as in associated extrapyramidal regions, such as red nucleus, brainstem reticular formation, and superior colliculus. These acetylcholinesterase changes may play a role in motor deficits, particularly the dystonic symptomatology observed in the mutation.

  10. Parry-Romberg syndrome with hemimasticatory spasm in pregnancy; A dystonia mimic

    Directory of Open Access Journals (Sweden)

    Akhila Kumar Panda

    2014-01-01

    Full Text Available Parry-Romberg syndrome (PRS with hemimasticatory spasm (HMS is quite an uncommon overlapping phenomenon which very often mimics jaw closing dystonia. A previously healthy 35-year-old female, during her 5 th month of pregnancy started developing intermittent unilateral painful spasms of jaw while conversation, clinching of teeth, or eating, which led to frequent tongue bites. The spasms were worsened during pregnancy. She used to do certain manoeuvre like sensory tricks in form of touching involved side of the face to relieve the symptoms. Apart from this, she developed progressive hemifacial and hemitongue atrophy. Other medical and neurological examinations were normal. Laboratory investigations as well as neuroimaging were noncontributory. The spasm responded to carbamazepine but hemifacial atrophy persists. To our best knowledge, onset and worsening of this syndrome in pregnancy has not been described earlier which might be correlated either with some hormonal imbalance or some unknown mechanisms.

  11. A rare cervical dystonia mimic in adults: congenital muscular torticollis (fibromatosis colli, a follow-up

    Directory of Open Access Journals (Sweden)

    Mehmet Can Uluer

    2016-02-01

    Full Text Available Neglected or undiagnosed congenital muscular torticollis (CMT in adults is quite rare, although it is the third most common congenital deformity in the newborn [1]. When left untreated at an early age, deficits in lateral and rotational range of motion can occur along with irreversible facial and skeletal deformities that develop over time. Subtle cases can go unnoticed until early adulthood, with predominant fibrotic replacement in the sternocleidomastoid (SCM making physical therapy and chemodenervation mostly ineffective. Surgical intervention, in these cases, can prove effective in alleviating pain, improving function and cosmesis [2].We report an update on a previously reported case, misdiagnosed as cervical dystonia, which had undergone partial myectomy of the anterior belly of the SCM with some relief of symptoms but not total resolution after the correct diagnosis of fibromatosis colli [3].

  12. Laryngeal dystonia in the course of multiple system atrophy: a cause of postoperative respiratory insufficiency.

    Science.gov (United States)

    Wujtewicz, Magdalena A; Chwojnicki, Kamil; Owczuk, Radosław; Wujtewicz, Maria

    2012-06-01

    Multiple system atrophy (MSA) is an adult onset, incurable neurodegenerative disease, characterized by symptoms of nervous system failure. Occurrence of laryngeal dystonia indicates increased risk of sudden death caused by airway occlusion. We present the case report of 63-year-old patient with history of orthostatic hypotension, parkinsonism, progressive adynamia, and stridor. The patient was admitted to the hospital for diagnosis of orthostatic hypotension. A diagnosis of possible MSA was made. Because of patient's complaints, an X-ray of the hip joint was taken. It revealed femoral neck fracture. Endoprosthesis insertion under general anesthesia was performed. Two days later the patient presented progressive adynamy and respiratory insufficiency. Endotracheal intubation and respiratory support were required followed by extubation and one more intubation. After second extubation, stridor and acute respiratory insufficiency occurred. Urgent tracheostomy was performed. After 13 days in ICU, the patient was discharged to the rehabilitation center.

  13. Severe tardive dystonia on low dose short duration exposure to atypical antipsychotics: Factors explored

    Directory of Open Access Journals (Sweden)

    Nilanjan C Chandra

    2017-01-01

    Full Text Available Tardive dystonia (TD is a serious side effect of antipsychotic medications, more with typical antipsychotics, that is potentially irreversible in affected patients. Studies show that newer atypical antipsychotics have a lower risk of TD. As a result, many clinicians may have developed a false sense of security when prescribing these medications. We report a case of 20-year-old male with hyperthymic temperament and borderline intellectual functioning, who developed severe TD after low dose short duration exposure to atypical antipsychotic risperidone and then olanzapine. The goal of this paper is to alert the reader to be judicious and cautious before using casual low dose second generation antipsychotics in patient with no core psychotic features, hyperthymic temperament, or borderline intellectual functioning suggestive of organic brain damage, who are more prone to develop adverse effects such as TD and monitor the onset of TD in patients taking atypical antipsychotics.

  14. Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study

    Directory of Open Access Journals (Sweden)

    Sara Marceglia

    2017-09-01

    Full Text Available Focal hand dystonia (FHD in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a possible non-invasive approach for modulating cortical excitability in patients with FHD. However, the optimal targets and modalities have still to be determined. In this pilot study, we delivered cathodal (2 mA, anodal (2 mA and sham tDCS over the motor areas bilaterally for 20 min daily for five consecutive days in two musicians with FHD. After cathodal tDCS, both patients reported a sensation of general wellness and improved symptoms of FHD. In conclusion, our pilot results suggest that cathodal tDCS delivered bilaterally over motor-premotor (M-PM cortex for 5 consecutive days may be effective in improving symptoms in FHD.

  15. Severe Tardive Dystonia on Low Dose Short Duration Exposure to Atypical Antipsychotics: Factors Explored

    Science.gov (United States)

    Chandra, Nilanjan C.; Sheth, Shabina A.; Mehta, Ritambhara Y.; Dave, Kamlesh R.

    2017-01-01

    Tardive dystonia (TD) is a serious side effect of antipsychotic medications, more with typical antipsychotics, that is potentially irreversible in affected patients. Studies show that newer atypical antipsychotics have a lower risk of TD. As a result, many clinicians may have developed a false sense of security when prescribing these medications. We report a case of 20-year-old male with hyperthymic temperament and borderline intellectual functioning, who developed severe TD after low dose short duration exposure to atypical antipsychotic risperidone and then olanzapine. The goal of this paper is to alert the reader to be judicious and cautious before using casual low dose second generation antipsychotics in patient with no core psychotic features, hyperthymic temperament, or borderline intellectual functioning suggestive of organic brain damage, who are more prone to develop adverse effects such as TD and monitor the onset of TD in patients taking atypical antipsychotics.

  16. Stable cognitive functioning with improved perceptual reasoning in children with dyskinetic cerebral palsy and other secondary dystonias after deep brain stimulation.

    Science.gov (United States)

    Owen, Tamsin; Adegboye, Dolapo; Gimeno, Hortensia; Selway, Richard; Lin, Jean-Pierre

    2017-01-01

    Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. Secondary dystonias are described as a heterogeneous group of disorders with both exogenous and endogenous causes. There is a growing body of literature on the effects of deep brain stimulation (DBS) surgery on the motor function in childhood secondary dystonias, however research on cognitive function after DBS is scarce. Cognitive function was measured in a cohort of 40 children with secondary dystonia following DBS surgery using a retrospective repeated measures design. Baseline pre-DBS neuropsychological measures were compared to scores obtained at least one year following DBS. Cognitive function was assessed using standardised measures of intellectual ability and memory. There was no significant change in the assessed domains of cognitive function following DBS surgery. A significant improvement across the group was found on the Picture Completion subtest, measuring perceptual reasoning ability, following DBS. Cognition remained stable in children with secondary dystonia following DBS surgery, with some improvements noted in a domain of perceptual reasoning. Further research with a larger sample is necessary to further explore this, in particular to further subdivide this group to account for its heterogeneity. This preliminary data has potentially positive implications for the impact of DBS on cognitive functioning within the childhood secondary dystonia population. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  17. Motor cortical hyperexcitability in idiopathic scoliosis: could focal dystonia be a subclinical etiological factor?

    Science.gov (United States)

    Doménech, Julio; Tormos, José María; Barrios, Carlos; Pascual-Leone, Alvaro

    2010-02-01

    The aetiology of idiopathic scoliosis (IS) remains unknown; however, there is a growing body of evidence suggesting that the spine deformity could be the expression of a subclinical nervous system disorder. A defective sensory input or an anomalous sensorimotor integration may lead to an abnormal postural tone and therefore the development of a spine deformity. Inhibition of the motor cortico-cortical excitability is abnormal in dystonia. Therefore, the study of cortico-cortical inhibition may shed some insight into the dystonia hypothesis regarding the pathophysiology of IS. Paired pulse transcranial magnetic stimulation was used to study cortico-cortical inhibition and facilitation in nine adolescents with IS, five teenagers with congenital scoliosis (CS) and eight healthy age-matched controls. The effect of a previous conditioning stimulus (80% intensity of resting motor threshold) on the amplitude of the motor-evoked potential induced by the test stimulus (120% of resting motor threshold) was examined at various interstimulus intervals (ISIs) in both abductor pollicis brevis muscles. The results of healthy adolescents and those with CS showed a marked inhibitory effect of the conditioning stimulus on the response to the test stimulus at interstimulus intervals shorter than 6 ms. These findings do not differ from those reported for normal adults. However, children with IS revealed an abnormally reduced cortico-cortical inhibition at the short ISIs. Cortico-cortical inhibition was practically normal on the side of the scoliotic convexity while it was significantly reduced on the side of the scoliotic concavity. In conclusion, these findings support the hypothesis that a dystonic dysfunction underlies in IS. Asymmetrical cortical hyperexcitability may play an important role in the pathogenesis of IS and represents an objective neurophysiological finding that could be used clinically.

  18. Does dystonic muscle activity affect sense of effort in cervical dystonia?

    Science.gov (United States)

    Carment, Loïc; Maier, Marc A.; Sangla, Sophie; Guiraud, Vincent; Mesure, Serge; Vidailhet, Marie

    2017-01-01

    Background Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues. Methods Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC). Three task conditions were tested: i) with visual force feedback, ii) without visual feedback (requiring use of sense of effort), iii) without visual feedback, but with neck extensor muscle vibration (modifying muscle afferent cues). Trapezius muscle activity was recorded using electromyography (EMG). Results CD patients did not differ in task performance from healthy subjects when using visual feedback (ANOVA, p>0.7). In contrast, when relying on sense of effort cues (without visual feedback, 5% MVC), force control was impaired in patients without retrocollis (p = 0.006), but not in patients with retrocollis (p>0.2). Compared to controls, muscle vibration without visual feedback significantly affected performance in patients with retrocollis (p<0.001), but not in patients without retrocollis. Extensor EMG during rest, included as covariate in ANOVA, explained these group differences. Conclusion This study shows that muscle afferent feedback biases sense of effort cues when controlling neck forces in patients with CD. The bias acts on peripheral or central sense of effort cues depending on whether the task involves dystonic muscles. This may explain why patients with retrocollis more accurately matched isometric neck extension forces. This highlights the need to consider clinical features (pattern of dystonic muscles) when evaluating sensorimotor integration in CD. PMID:28192488

  19. Negative dystonia of the palate: a novel entity and diagnostic consideration in hypernasal speech.

    Science.gov (United States)

    Sinclair, Catherine F; Simonyan, Kristina; Brin, Mitchell F; Blitzer, Andrew

    2015-06-01

    To present the first documented series of patients with negative dystonia (ND) of the palate, including clinical symptoms, functional MRI findings, and management options. Case series ascertained from clinical research centers that evaluated patients with both hyperkinetic and hypokinetic movement disorders. Between July 1983 and March 2013, data was collected on patient demographics, disease characteristics, functional MRI findings, long-term management options, and outcomes. We sought patients whose clinical examination demonstrated absent palatal movement on speaking, despite normal palatal activity on other activities. Five patients (2 males, 3 females) met clinical criteria. All patients presented with hypernasal speech without associated dysphagia. Clinical examination revealed absent palatal movement on speaking despite intact gag reflexes, normal palate elevation on swallowing, and normal cranial nerve examinations. Other cranial and/or limb dystonias were present in four patients (80.0%). Three patients (60.0%) had previously failed oral pharmacologic therapy. Two patients underwent functional magnetic resonance imaging (fMRI) studies, which demonstrated an overall decrease of cortical and subcortical activation during production of symptomatic syllables and asymptomatic coughing. Management included speech therapy (all patients) and palatal lift (2 patients) with limited improvement. Calcium hydroxyapatite injection (1 patient) into the soft palate and Passavants' ridge was beneficial. This is the first report of ND of the palate. Characteristic findings were task-specific absent palatal movement with speech, despite normal movement on swallowing, coughing, and an intact gag reflex, as well as disorder-specific decreased brain activation on functional MRI. A diagnosis of ND of the palate should be considered for patients who present with hypernasal speech. 4. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  20. Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine

    Science.gov (United States)

    Martella, Giuseppina; Tassone, Annalisa; Sciamanna, Giuseppe; Platania, Paola; Cuomo, Dario; Viscomi, Maria Teresa; Bonsi, Paola; Cacci, Emanuele; Biagioni, Stefano; Usiello, Alessandro; Bernardi, Giorgio; Sharma, Nutan

    2009-01-01

    DYT1 dystonia is a severe form of inherited dystonia, characterized by involuntary twisting movements and abnormal postures. It is linked to a deletion in the dyt1 gene, resulting in a mutated form of the protein torsinA. The penetrance for dystonia is incomplete, but both clinically affected and non-manifesting carriers of the DYT1 mutation exhibit impaired motor learning and evidence of altered motor plasticity. Here, we characterized striatal glutamatergic synaptic plasticity in transgenic mice expressing either the normal human torsinA or its mutant form, in comparison to non-transgenic (NT) control mice. Medium spiny neurons recorded from both NT and normal human torsinA mice exhibited normal long-term depression (LTD), whereas in mutant human torsinA littermates LTD could not be elicited. In addition, although long-term potentiation (LTP) could be induced in all the mice, it was greater in magnitude in mutant human torsinA mice. Low-frequency stimulation (LFS) can revert potentiated synapses to resting levels, a phenomenon termed synaptic depotentiation. LFS induced synaptic depotentiation (SD) both in NT and normal human torsinA mice, but not in mutant human torsinA mice. Since anti-cholinergic drugs are an effective medical therapeutic option for the treatment of human dystonia, we reasoned that an excess in endogenous acetylcholine could underlie the synaptic plasticity impairment. Indeed, both LTD and SD were rescued in mutant human torsinA mice either by lowering endogenous acetylcholine levels or by antagonizing muscarinic M1 receptors. The presence of an enhanced acetylcholine tone was confirmed by the observation that acetylcholinesterase activity was significantly increased in the striatum of mutant human torsinA mice, as compared with both normal human torsinA and NT littermates. Moreover, we found similar alterations of synaptic plasticity in muscarinic M2/M4 receptor knockout mice, in which an increased striatal acetylcholine level has been

  1. Alternating hemidystonia following traumatic brain injury as an unusual presentation of paroxysmal autonomic instability with dystonia syndrome.

    Science.gov (United States)

    Buerger, Kelly J; Salazar, Richard

    2014-01-01

    A 20-year-old man presented to the neurotrauma intensive care unit following blunt head injury. MRI revealed subarachnoid haemorrhage and multiple intraparenchymal haemorrhages suggesting severe brain injury. During recovery, the patient displayed intermittent episodes of alternating hemibody spasms with decerebrate/decorticate dystonic posturing. Episodes presented with autonomic dysregulation including hyperthermia, diaphoresis, tachypnoea, tachycardia and hypertension. Concern for seizure activity prompted simultaneous video monitoring and EEG testing. Results were without epileptiform activity suggesting against seizure as cause for alternating hemibody spasms. Paroxysmal autonomic instability with dystonia (PAID) was considered despite the unusual presentation. Intravenous hydromorphone was used for treatment, which relieved symptoms of autonomic dysregulation and dystonic posturing. PAID syndrome was diagnosed based on presentation with intermittent episodes of dystonia, autonomic dysregulation, absence of epileptiform activity and rapid response to opioid treatment. This case illustrates the clinical variability of this uncommon syndrome because alternating hemidystonia as main manifestation has not been previously described.

  2. Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene

    Institute of Scientific and Technical Information of China (English)

    YEUNG Wai Lan; LAM Ching Wan; CHENG Wai Tsoi; SIN Ngai Chuen; WONG Wing Kin; WONG Chun Nei; TSE Ka Ming; FOK Tai Fai

    2005-01-01

    @@ Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. At least thirteen different types of dystonia can be distinguished on a genetic basis.1 The DYT1 gene was first mapped by Ozelius et al in 1989.2 Kramer et al3 linked the same locus to PTD in 12 Ashkenazi Jewish families in 1990. Most patients with early-onset generalized PTD were caused by the same three base pair (GAG) deletion in the DYT1 gene on chromosome 9q34.1,4,5 The product of the gene is a protein called torsinA.5 Although the function of this protein is as yet uncertain, it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.

  3. SPECT abnormalities with unilateral arm dystonia in a young mentally retarded apprentice cook: contralateral thalamo-cortical dysfunction.

    Science.gov (United States)

    Hiraga, Akiyuki; Fukutake, Toshio; Arai, Kimihito; Kikkawa, Yuriko; Hattori, Takamichi

    2003-06-01

    We report a young, mentally retarded apprentice cook with a 2-month history of right upper extremity dystonia, for whom diazepam therapy was efficacious. We evaluated brain perfusion by single photon emission tomography (SPECT) before and after diazepam treatment. The abnormal hyperperfusion in the left thalamus and hypoperfusion in the left frontal cortex were normalized on the second SPECT under the successful diazepam treatment. These findings were indicative of functional changes in the left thalamus and left frontal cortex.

  4. Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia.

    Science.gov (United States)

    Hamann, Melanie; Meisler, Miriam H; Richter, Angelika

    2003-12-01

    The med(J) mouse with twisting movements related to deficiency of the sodium channel Scn8a has been proposed as a model of kinesiogenic dystonia. This prompted us to examine the phenotype of these mice in more detail. By cortical electroencephalographic (EEG) recordings, we could not detect any changes, demonstrating that the motor disturbances are not epileptic in nature, an important similarity to human dystonia. The significantly decreased body weight of med(J) mice was related to reduced food intake. Observations in the open field and by video recordings revealed that the mice exhibit sustained abnormal postures and movements of limbs, trunk and tail not only during locomotor activity but also at rest. With the exception of the head tremor, the other motor impairments were persistent rather than paroxysmal. When several neurological reflexes were tested, alterations were restricted to the posture and righting reflexes. Results of the wire hang test confirmed the greatly reduced muscle strength in the med(J) mouse. In agreement with different types of human dystonia, biperiden, haloperidol and diazepam moderately reduced the severity of motor disturbances in med(J) mice. In view of the sodium channel deficiency in med(J) mice, the beneficial effects of the sodium channel blocker phenytoin was an unexpected finding. By immunohistochemical examinations, the density of nigral dopaminergic neurons was found to be unaltered, substantiating the absence of pathomorphological abnormalities within the brain of med(J) mice shown by previous studies. With the exception of muscle weakness, many of the features of the med(J) mouse are similar to human idiopathic dystonia.

  5. A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma

    OpenAIRE

    Frisardi, Gianni; Iani, Cesare; Sau, Gianfranco; Frisardi, Flavio; Leonardis, Carlo; Lumbau, Aurea Maria Immacolata; Enrico, Paolo; Sirca, Donatella; Staderini, Enrico Maria; Chessa, Giacomo Innocenzo

    2013-01-01

    Background: In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Methods: Electrophysiological studies included bilateral electrical transcrania...

  6. Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia.

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    Giuseppe Sciamanna

    Full Text Available BACKGROUND: DYT1 dystonia, a severe form of genetically determined human dystonia, exhibits reduced penetrance among carriers and begins usually during adolescence. The reasons for such age dependence and variability remain unclear. METHODS AND RESULTS: We characterized the alterations in D2 dopamine receptor (D2R signalling in striatal cholinergic interneurons at different ages in mice overexpressing human mutant torsinA (hMT. An abnormal excitatory response to the D2R agonist quinpirole was recorded at postnatal day 14, consisting of a membrane depolarization coupled to an increase in spiking frequency, and persisted unchanged at 3 and 9 months in hMT mice, compared to mice expressing wild-type human torsinA and non-transgenic mice. This response was blocked by the D2R antagonist sulpiride and depended upon G-proteins, as it was prevented by intrapipette GDP-β-S. Patch-clamp recordings from dissociated interneurons revealed a significant increase in the Cav2.2-mediated current fraction at all ages examined. Consistently, chelation of intracellular calcium abolished the paradoxical response to quinpirole. Finally, no gross morphological changes were observed during development. CONCLUSIONS: These results suggest that an imbalanced striatal dopaminergic/cholinergic signaling occurs early in DYT1 dystonia and persists along development, representing a susceptibility factor for symptom generation.

  7. Clinical and Epidemiological Correlates of Task-Specific Dystonia in a Large Cohort of Brazilian Music Players

    Science.gov (United States)

    Moura, Rita C.; de Carvalho Aguiar, Patrícia Maria; Bortz, Graziela; Ferraz, Henrique Ballalai

    2017-01-01

    Musician’s dystonia is a task-specific dystonia (TSD) worldwide disabling disorder, and most of the affected individuals may have severe difficulty to play their instrument. Many professional music players may have to quit working as a player. The objective of the present study was to evaluate the clinical characteristics and frequency of TSD in Brazilian music players and to promote awareness of this condition among musicians. We visited orchestras and music schools delivering lectures on TSD and about the scope of our survey. Musicians were invited to answer a questionnaire, and those with possible neurological dysfunction associated with musical performance were recorded by video while playing the instrument. We visited 51 orchestras and music schools in 19 Brazilian cities between March 2013 and March 2015. We collected 2,232 questionnaires, and 72 subjects with suspicion of dystonia were video recorded during specific tasks and evaluated regarding motor impairment. Forty-nine individuals (2.2%) were diagnosed as having TSD (mean age 36.4 years; 92% male). The instruments most associated with TSD were acoustic guitar (36.7%) and brass instruments (30.6%). We concluded that Brazilian TSD music players are mainly male, classical music professionals, around 30 years of age, with arms, hands, or oromandibular muscles affected. TSD is a neurological condition that can impair musical performance and should receive more attention from musicians, teachers, and health professionals. PMID:28321203

  8. Clinical and Epidemiological Correlates of Task-Specific Dystonia in a Large Cohort of Brazilian Music Players.

    Science.gov (United States)

    Moura, Rita C; de Carvalho Aguiar, Patrícia Maria; Bortz, Graziela; Ferraz, Henrique Ballalai

    2017-01-01

    Musician's dystonia is a task-specific dystonia (TSD) worldwide disabling disorder, and most of the affected individuals may have severe difficulty to play their instrument. Many professional music players may have to quit working as a player. The objective of the present study was to evaluate the clinical characteristics and frequency of TSD in Brazilian music players and to promote awareness of this condition among musicians. We visited orchestras and music schools delivering lectures on TSD and about the scope of our survey. Musicians were invited to answer a questionnaire, and those with possible neurological dysfunction associated with musical performance were recorded by video while playing the instrument. We visited 51 orchestras and music schools in 19 Brazilian cities between March 2013 and March 2015. We collected 2,232 questionnaires, and 72 subjects with suspicion of dystonia were video recorded during specific tasks and evaluated regarding motor impairment. Forty-nine individuals (2.2%) were diagnosed as having TSD (mean age 36.4 years; 92% male). The instruments most associated with TSD were acoustic guitar (36.7%) and brass instruments (30.6%). We concluded that Brazilian TSD music players are mainly male, classical music professionals, around 30 years of age, with arms, hands, or oromandibular muscles affected. TSD is a neurological condition that can impair musical performance and should receive more attention from musicians, teachers, and health professionals.

  9. Modulation of Muscle Tone and Sympathovagal Balance in Cervical Dystonia Using Percutaneous Stimulation of the Auricular Vagus Nerve.

    Science.gov (United States)

    Kampusch, Stefan; Kaniusas, Eugenijus; Széles, Jozsef C

    2015-10-01

    Primary cervical dystonia is characterized by abnormal, involuntary, and sustained contractions of cervical muscles. Current ways of treatment focus on alleviating symptomatic muscle activity. Besides pharmacological treatment, in severe cases patients may receive neuromodulative intervention such as deep brain stimulation. However, these (highly invasive) methods have some major drawbacks. For the first time, percutaneous auricular vagus nerve stimulation (pVNS) was applied in a single case of primary cervical dystonia. Auricular vagus nerve stimulation was already shown to modulate the (autonomous) sympathovagal balance of the body and proved to be an effective treatment in acute and chronic pain, epilepsy, as well as major depression. pVNS effects on cervical dystonia may be hypothesized to rely upon: (i) the alteration of sensory input to the brain, which affects structures involved in the genesis of motoric and nonmotoric dystonic symptoms; and (ii) the alteration of the sympathovagal balance with a sustained impact on involuntary movement control, pain, quality of sleep, and general well-being. The presented data provide experimental evidence that pVNS may be a new alternative and minimally invasive treatment in primary cervical dystonia. One female patient (age 50 years) suffering from therapy refractory cervical dystonia was treated with pVNS over 20 months. Significant improvement in muscle pain, dystonic symptoms, and autonomic regulation as well as a subjective improvement in motility, sleep, and mood were achieved. A subjective improvement in pain recorded by visual analog scale ratings (0-10) was observed from 5.42 to 3.92 (medians). Muscle tone of the mainly affected left and right trapezius muscle in supine position was favorably reduced by about 96%. Significant reduction of muscle tone was also achieved in sitting and standing positions of the patient. Habituation to stimulation leading to reduced stimulation efficiency was observed and

  10. 多巴反应性肌张力障碍%Dopa-responsive dystonia

    Institute of Scientific and Technical Information of China (English)

    孙琳; 许继平; 毕建忠; 尚伟; 郭沂涟; 王晓云; 石俊峰; 来超

    2001-01-01

    Objective To explore the clinical feature and treatment method of the dopa-responsive dystonia (DRD).Methods To observe the clinical manifestation,auxiliary test and the response on the treatment of levodopa in 6 patients from 4 families.Results 1 patient for childhood-onset and 2 patients for adolescent-onset with DRD, first symptom showed leg dystonia and toe-walking with difficulty, whereas 3 patients of adult-onset showed tremor and rigidity. Babinski sign was presented in 3 cases. Diurnal fluctuation in symptom severity occurred in all cases. All patients had obvious response to small dose levodopa in 1~6 days. In 2 cases, the effect was maintained for 7 years, without increasing the intake of levodopa.Conclusion The clinical feature of DRD was more remarkable,the therapeutic effectiveness of levodopa was rapid,sustained and obvious.%目的 探讨多巴反应性肌张力障碍的临床特点及治疗。方法 观察6例来自4个家庭患者的临床表现、辅助检查及对左旋多巴治疗的反应。结果 1例儿童期、2例少年期起病者,首发症状均为下肢肌张力异常、足跟着地困难;3例青年起病者表现为震颤、肢体僵硬;3例出现病理征阳性;6例症状均呈晨轻暮重。服用多巴制剂1~6天内均有明显疗效,用药最长者(2例)达7年,未增加剂量。结论 该病临床特点较明显,多巴制剂对其有快速、显著、持续的疗效。

  11. Striving for more good days: patient perspectives on botulinum toxin for the treatment of cervical dystonia

    Directory of Open Access Journals (Sweden)

    Poliziani M

    2016-08-01

    Full Text Available Michele Poliziani,1 Marco Koch,2 Xierong Liu1 1Opinion Health, London, UK; 2Merz Pharmaceuticals GmbH, Frankfurt am Main, Germany Background: The recommended reinjection interval for botulinum neurotoxin (BoNT formulations in the treatment of cervical dystonia (CD is generally ≥12 weeks, though intervals ≥10 weeks are approved for incobotulinumtoxinA in Europe. However, recurring symptoms can occur before the end of this period. Using qualitative research, we sought a greater understanding of disease burden, unmet patient needs, and barriers to treatment. Methods: We conducted online semistructured, focus-group discussions, and online forum follow-up discussions among patients with CD, focusing on disease burden, patient needs, injection cycle preferences, and relationships with health care professionals. A subset of patients was also questioned in telephone interviews about individual experiences of CD and BoNT treatment. All participants were UK residents who had received onabotulinumtoxinA or abobotulinumtoxinA for CD for ≥1 year. Results: Thirty-one patients (81% female; mean duration of CD 16.4 [range 4–31] years; mean BoNT injection cycle length 12.8 weeks participated in the online focus-group and forum follow-up discussions. Of these, seven patients participated in telephone interviews. All had recurring symptoms between treatments, which substantially impacted on their work, family, and social life. Symptom severity fluctuated throughout an injection cycle and differed between patients and across injection cycles. Participants’ relationships with health care professionals and treatment satisfaction varied greatly. Many participants wanted longer-lasting and/or more stable symptom relief with shorter and/or more flexible injection intervals, according to individual needs. Lack of health care resources, long journeys to treatment centers, and immunogenicity/side-effect concerns were perceived as the main barriers to more

  12. Pargyline reduces/prevents neuroleptic-induced acute dystonia in monkeys.

    Science.gov (United States)

    Heintz, R; Casey, D E

    1987-01-01

    The neuropharmacologic mechanisms underlying neuroleptic-induced extrapyramidal syndromes (EPS) were studied using a nonhuman primate model. Twenty-six Cebus albifrons monkeys were given weekly challenges of haloperidol (0.025 mg/kg IM), and half of the animals received the monoamine oxidase (MAO) inhibitor pargyline (5 mg/kg PO) daily for 17 consecutive days during the protocol. Pargyline caused no changes in baseline behaviors, but significantly reduced haloperidol-induced acute dystonia (AD) (-67%, P less than 0.002) and parkinsonism (-56%, P less than 0.005). The majority (8 of 13) of the experimental group had complete prevention of neuroleptic-induced EPS during cotreatment with pargyline. Behavioral scores returned to baseline levels after stopping pargyline, and did not show the further sensitization to haloperidol-induced AD that occurred in the control group. The possible mechanisms by which an MAO inhibitor might influence neuroleptic-induced AD were considered. The most likely explanation would appear to involve facilitation of striatal dopamine (DA) neurotransmission by inhibition of intra- and extraneuronal MAO, thus supporting the hypothesis that AD is due to decreased striatal DA function with secondary cholinergic hyperfunction.

  13. Long latency trigemino-cervical reflex in patients with cervical dystonia.

    Science.gov (United States)

    Gündüz, Ayşegül; Ergin, Hayal; Kızıltan, Meral E

    2015-01-01

    Trigemino-cervical reflex (TCR) is elicited by stimulation of face using various modalities. TCR reflects the interaction between trigeminal system and cervical motoneurons. Such a specific interaction is assumed to play role in development of cervical dystonia (CD) through superior colliculus. In this study, we aimed to investigate alterations of the functional relationship between those structures in CD and in a subgroup with dystonic tremor. A total of consecutive 23 patients with primary CD (7 men, 16 women) and 16 age and sex matched control subjects (7 men, 9 women) were included in this study. TCR was obtained after percutaneous electrical stimulation (with duration of 0.5 ms) of infraorbital branch of trigeminal nerve while recording over splenius capitis and sternocleidomastoid muscles. Presence and onset latencies of TCR did not differ significantly between patients with CD and controls, and same pattern of muscle activation occurred in both groups. Responses of patient group seemed to have higher amplitudes and to be more persistent. There were no significant side-to-side differences of TCR probability, latency, amplitude or duration with respect to the side of head deviation in CD. Increased amplitudes and durations of responses probably reflect increased excitability of the reflex circuit. We suggest that similar latencies and response pattern in comparison to healthy individuals decrease the possibility of structural disturbance. TCR is probably under bilateral basal ganglia and dopaminergic control. Alterations of trigemino-cervical pathway are more extensive and are not solely due to local changes of brainstem interneurons.

  14. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

    Science.gov (United States)

    Sheridan, M B; Bytyci Telegrafi, A; Stinnett, V; Umeh, C C; Mari, Z; Dawson, T M; Bodurtha, J; Batista, D A S

    2013-10-01

    Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (uniparental disomy. Parental SNP arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7) with regions of heterodisomy and isodisomy. mUPD7 is the cause of approximately 5-10% of Silver-Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. Although SRS was not suspected in our patient, these findings explain his short stature. SGCE methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M-D and help to optimize his medication regimen. In conclusion, we show that M-D is a clinical feature that may be associated with SRS due to mUPD7. Individuals with mUPD7 should be monitored for the development of movement disorders. Conversely, individuals with M-D and short stature should be evaluated for SRS.

  15. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

    Science.gov (United States)

    Wortmann, Saskia B; van Hasselt, Peter M; Barić, Ivo; Burlina, Alberto; Darin, Niklas; Hörster, Friederike; Coker, Mahmut; Ucar, Sema Kalkan; Krumina, Zita; Naess, Karin; Ngu, Lock H; Pronicka, Ewa; Riordan, Gilian; Santer, Rene; Wassmer, Evangeline; Zschocke, Johannes; Schiff, Manuel; de Meirleir, Linda; Alowain, Mohammed A; Smeitink, Jan A M; Morava, Eva; Kozicz, Tamas; Wevers, Ron A; Wolf, Nicole I; Willemsen, Michel A

    2015-04-01

    Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

  16. Long-Term Efficacy and Safety of Botulinum Toxin Injections in Dystonia

    Directory of Open Access Journals (Sweden)

    Juan Ramirez-Castaneda

    2013-02-01

    Full Text Available Local chemodenervation with botulinum toxin (BoNT injections to relax abnormally contracting muscles has been shown to be an effective and well-tolerated treatment in a variety of movement disorders and other neurological and non-neurological disorders. Despite almost 30 years of therapeutic use, there are only few studies of patients treated with BoNT injections over long period of time. These published data clearly support the conclusion that BoNT not only provides safe and effective symptomatic relief of dystonia but also long-term benefit and possibly even favorably modifying the natural history of this disease. The adverse events associated with chronic, periodic exposure to BoNT injections are generally minor and self-limiting. With the chronic use of BoNT and an expanding list of therapeutic indications, there is a need to carefully examine the existing data on the long-term efficacy and safety of BoNT. In this review we will highlight some of the aspects of long-term effects of BoNT, including efficacy, safety, and immunogenicity.

  17. Aberrant Oscillatory Activity during Simple Movement in Task-Specific Focal Hand Dystonia.

    Science.gov (United States)

    Hinkley, Leighton B N; Dolberg, Rebecca; Honma, Susanne; Findlay, Anne; Byl, Nancy N; Nagarajan, Srikantan S

    2012-01-01

    In task-specific focal hand dystonia (tspFHD), the temporal dynamics of cortical activity in the motor system and how these processes are related to impairments in sensory and motor function are poorly understood. Here, we use time-frequency reconstructions of magnetoencephalographic (MEG) data to elaborate the temporal and spatial characteristics of cortical activity during movement. A self-paced finger tapping task during MEG recording was performed by 11 patients with tspFHD and 11 matched healthy controls. In both groups robust changes in beta (12-30 Hz) and high gamma (65-90 Hz) oscillatory activity were identified over sensory and motor cortices during button press. A significant decrease [p press. Furthermore, an increase (p press in patients with tspFHD. Oscillatory activity within in the tspFHD group was however not correlated with clinical measures. Understanding these aberrant oscillatory dynamics can provide the groundwork for interventions that focus on modulating the timing of this activity.

  18. The sensory consequences of repetitive strain injury in musicians: focal dystonia of the hand.

    Science.gov (United States)

    Byl, N; Hamati, D; Melnick, M; Wilson, F; McKenzie, A

    1996-01-01

    Some individuals with repetitive strain injury (RSI) develop focal dystonia of the hand (FDh), a disorder of motor control manifested in a specific context during skilled, hand movements. This descriptive study was designed to determine if musicians with FDh had reduced tactile discrimination. Ten healthy adults and ten patients with FDh participated in the study. From the standardized Sensory Integration and Praxis Test, five subtests were selected to measure tactile discrimination. The Paired Wilcoxon Test was used to analyze, meaningful, planned pairwise differences by side and by group. The two groups performed similarly on the three tests measuring tactile motor perception (Finger Identification, Localization and Kinesthesia). However, those with FDh performed significantly worse than the healthy comparison group on two tactile perceptual tasks: (1) Graphesthesia, right affected (P < 0.003) and left unaffected (p < 0.005); and (2) Manual Form Perception (stereognosis) on the right affected (P < 0.002) and left unaffected (P < 0.002). It is possible that the somatosensory differences as measured by tactile discrimination tasks represent some degradation of the hand representation following prolonged, repetitive, near simultaneous sensory stimulation of adjacent digits. Tactile discrimination should be tested in patients with RSI to detect potential risks for developing FDh. Effective treatment of patients with RSI including FDh may need to target the somatosensory deficits in order to restore stress-free motor movements.

  19. Focal Dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE

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    David ePerruchoud

    2014-06-01

    Full Text Available Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, and the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic-functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE. Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

  20. Botulinum toxin type A and cervical dystonia: a seven-year follow-up

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    Carlos Henrique F. Camargo

    2011-10-01

    Full Text Available Most cases of cervical dystonia (CD are idiopathic, and focal injections of botulinum toxin A (BoNT/A are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS at baseline assessment (2001-2002 and follow-up (2008-2009 was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6±6.6 and 17.7±4.8; p<0.05. There was no improvement in the severity of cervical pain (p=0.43. In conclusion, BoNT/A was a safe and effective long-term therapy for CD.

  1. Physical therapy program for cervical dystonia: a study of 20 cases

    Science.gov (United States)

    Queiroz, Mariana Araujo Ribeiro; Chien, Hsin Fen; Sekeff-Sallem, Flávio Augusto; Barbosa, Egberto Reis

    2012-01-01

    Summary Botulinum toxin (BTX) is the best therapeutic option in patients with cervical dystonia (CD), but physical therapy (PT) can be added to the treatment to achieve better results. Forty of our 70 patients with CD were enrolled in a controlled open study. Subjects were divided into two groups: G1 (intervention group comprising patients receiving BTX and PT) and G2 (control group comprising patients receiving BTX only). Both groups were assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the 36-Item Short-Form Health Survey (SF-36). On the TWSTRS, significant improvements in disease severity were seen in G1 and G2 but significant improvements on the pain and disability subscales were seen only in G1 patients. There was a significant difference only on the pain sub-scale between G2 and G1 following treatment. An analysis of the physical aspects of SF-36 showed significant improvement in G1 on three subscales. An intergroup difference was also seen on two subscales. Regarding emotional aspects, G1 showed a significant improvement on three subscales. A significant difference on two subscales was also seen between G2 and G1 following treatment. BTX plus PT treatment achieved symptom relief in patients with CD and improved their quality of life. PMID:23402680

  2. TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

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    Joshua T. Geiger

    2017-08-01

    Full Text Available Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. Methods: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause. Bioinformatic modeling and a systematic review of literature was conducted to investigate genotype-phenotype correlations. Results: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encoding the β-isoform of tubulin. In silico analysis indicated that this mutation was pathogenic. On neuroimaging, the patient had asymmetric pachygyria and dysmorphic basal ganglia. Her neurological examination demonstrated mild cognitive impairment, myoclonus-dystonia, and skeletal anomalies. Conclusions: Here, we report the unique phenotype of an adult TUBB2B mutation carrier. This case illustrates a relatively mild phenotype compared to previously described fetal and early childhood cases. This highlights the importance of obtaining molecular genetic testing in individuals with a high probability of a genetic disease, including undiagnosed adult patients.

  3. Beneficial response of cervical dystonia spasmodic torticollis to cidofovir, an acyclic phosphonate analog (s-1-3-hydroxy-2- phosphonylmethoxypropyl of cytosine

    Directory of Open Access Journals (Sweden)

    Lerner AM

    2014-09-01

    Full Text Available A Martin Lerner,1 Safedin Beqaj21Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA; 2Pathology Inc., Torrance, CA, USAAbstract: We report the case of a 23-year-old healthy man who had sudden onset of cervical dystonia spasmodic torticollis in October 2012. He was treated with intravenous cidofovir, which was started on February 20, 2013, followed by oral valganciclovir and famciclovir. Pulling of the neck and tilt of the head far to the left is no longer present (as at April 22, 2014. Human herpesvirus 6 total antibody titers fell from 11.27 (negative <1 on January 15, 2013 to 1.89 on August 5, 2013. To our knowledge, this is the first case of improvement in cervical dystonia spasmodic torticollis with treatment.Keywords: cidofovir, spasmodic torticollis, cervical dystonia

  4. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

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    Erin Conboy

    2017-01-01

    Full Text Available ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

  5. Homeostatic-like plasticity of the primary motor hand area is impaired in focal hand dystonia.

    Science.gov (United States)

    Quartarone, Angelo; Rizzo, Vincenzo; Bagnato, Sergio; Morgante, Francesca; Sant'Angelo, Antonino; Romano, Marcello; Crupi, Domenica; Girlanda, Paolo; Rothwell, John C; Siebner, Hartwig R

    2005-08-01

    The excitability of inhibitory circuits in patients with writer's cramp is reduced at multiple levels within the sensorimotor system, including the primary motor hand area (M1). Although this may play a major role in the pathophysiology of writer's cramp, it is still unclear what factors may cause the imbalance between inhibition and excitation to arise. One possibility is that homeostatic mechanisms that keep cortical excitability within a normal physiological range are impaired. In eight patients with writer's cramp and eight healthy age-matched controls, we combined low-frequency repetitive transcranial magnetic stimulation (rTMS) with transcranial direct current stimulation (TDCS) to probe regional homeostatic plasticity of the left M1. Confirming our previous study (Siebner et al., J Neurosci 2004; 24: 3379-85), 'facilitatory' preconditioning of the M1 with anodal TDCS enhanced the inhibitory effect of subsequent 1 Hz rTMS on corticospinal excitability. Conversely, 'inhibitory' preconditioning with cathodal TDCS reversed the after effect of 1 Hz rTMS, producing an increase in corticospinal excitability. The results were quite different in patients with writer's cramp. Following preconditioning with TDCS, 1 Hz rTMS induced no consistent changes in corticospinal excitability, indicating a loss of the normal 'homeostatic' response pattern. In addition, the normal inhibitory effect of preconditioning with cathodal TDCS was absent. The present data suggest that homeostatic mechanisms that stabilize excitability levels within a useful dynamic range are impaired in patients with writer's cramp. We propose that a faulty homeostatic response to acute increases in corticospinal excitability favours maladaptive motor plasticity. The role of homeostatic-like plasticity in the pathophysiology of task-specific dystonias warrants further study.

  6. A functional magnetic resonance imaging study of head movements in cervical dystonia

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    Cecília N. Prudente

    2016-11-01

    Full Text Available Cervical dystonia (CD is a neurological disorder characterized by abnormal movements and postures of the head. The brain regions responsible for these abnormal movements are not well understood, because most imaging techniques for assessing regional brain activity cannot be used when the head is moving. Recently, we mapped brain activation in healthy individuals using functional magnetic resonance imaging (fMRI during isometric head rotation, when muscle contractions occur without actual head movements. In the current study, we used the same methods to explore the neural substrates for head movements in subjects with CD who had predominantly rotational abnormalities (torticollis. Isometric wrist extension was examined for comparison. Electromyography of neck and hand muscles ensured compliance with tasks during scanning, and any head motion was measured and corrected. Data were analyzed in three steps. First, we conducted within-group analyses to examine task-related activation patterns separately in subjects with CD and in healthy controls. Next, we directly compared task-related activation patterns between participants with CD and controls. Finally, considering that the abnormal head movements in CD occur in a consistently patterned direction for each individual, we conducted exploratory analyses that involved normalizing data according to the direction of rotational CD. The between-group comparisons failed to reveal any significant differences, but the normalization procedure in subjects with CD revealed that isometric head rotation in the direction of dystonic head rotation was associated with more activation in the ipsilateral anterior cerebellum, whereas isometric head rotation in the opposite direction was associated with more activity in sensorimotor cortex. These findings suggest that the cerebellum contributes to abnormal head rotation in CD, whereas regions in the cerebral cortex are involved in opposing the involuntary movements.

  7. Dopa-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report

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    José Luiz Dias Gherpelli

    1995-06-01

    Full Text Available Progressive dystonia with diurnal fluctuations sensitive to levodopa, also known as Segawa's disease, is a rare form of autosomal dominant extrapyramidal disease in the pediatric age group. The dystonic and Parkinson-like symptoms are the main clinical features of the disease and, characteristically but not in all cases, show a diurnal variation. They are absent or present to a lesser extent in the morning, worsening during the day. Treatment with small doses of levodopa results in remission or marked improvement of the symptomatology. We present the case of a 11 years old female patient that developed a dystonic posture in her feet that led her to a tip-toe walking pattern, since the age of 2. Diurnal fluctuations of the symptomatology were noticed by her mother. At 7 years of age she developed a left deviation of the head and an abnormal flexor posture of the left arm. In the next years the symptoms progressed and the fluctuations became less evident. At the age of 10, they were present soon after she woke up in the morning. The neurological examination disclosed a dystonic posturing of the head and left arm, a generalized rigidity of the extremities and a palpebral tremor. Laboratory examinations, including copper and ceruloplasmin, and neuro-imaging studies were negative. She was started on levodopa 150 mg/day with prompt disappearance of the symptomatology. After one-year follow-up she is symptom-free with only 100 mg/day of levodopa. No adverse effect was observed so far.

  8. Distonia de torsão e síndrome parkinsoniana Torsion dystonia and Parkinson's syndrome

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    José Geraldo Camargo Lima

    1973-03-01

    Full Text Available Os autores relatam 4 casos de distonia de torsão, do tipo torcicolo espasmódico, associada a síndrome parkinsoniana. Todos os pacientes eram do sexo feminino e as idades de início da síndrome parkinsoniana e da síndrome distônica variaram de 12 a 40 anos e de 18 a 40 anos, respectivamente. Em apenas uma paciente a distonia precedeu ao parkinsonismo. A síndrome parkinsoniana era predominantemente unilateral e hipertônica. A etiologia encefalítica foi a aventada em todos os casos.Four cases of torsion dystonia of the spasmodic torticollis type associated to Parkinson's syndrome are reported. All the patients were female and the ages at the begining of the parkinsonism and the dystonic syndrome varied respectively from 12 to 40 and from 18 to 40 years. In just one patient the dystonia preceded the parkinsonism. The Parkinson's syndrome was predominantly unilateral and hypertonic. The encephalitic etiology was suggested in all the cases.

  9. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

    Science.gov (United States)

    Grütz, Karen; Seibler, Philip; Weissbach, Anne; Lohmann, Katja; Carlisle, Francesca A.; Blake, Derek J.; Westenberger, Ana; Klein, Christine; Grünewald, Anne

    2017-01-01

    In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation. DNA sequencing with methylation-specific primers and cDNA analysis in patient neurons indicated selective expression of the mutated paternal SGCE allele. While fibroblasts only expressed the ubiquitous mRNA isoform, brain-specific SGCE mRNA and ε-sarcoglycan protein were detected in iPSC-derived control neurons. However, neuronal protein levels were reduced in both mutants. Our phenotypic characterization highlights the suitability of iPSC-derived cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms, prompts the use of iPSC-derived cellular models to study epigenetic mechanisms impacting on health and disease. PMID:28155872

  10. Persistent neuroleptic-induced rigidity and dystonia in AIDS dementia complex: a clinico-pathological case report.

    Science.gov (United States)

    Factor, S A; Podskalny, G D; Barron, K D

    1994-12-01

    Patients with AIDS dementia complex (ADC) appear to have an increased likelihood of developing acute onset parkinsonism and dystonia when treated with dopamine antagonists. It has been hypothesized, based on clinical evidence, that hypersensitivity to these drugs in ADC is probably related to direct invasion of the basal ganglia by the HIV virus and a secondary alteration in dopaminergic mechanisms. We report the first pathological description of a patient with ADC who developed acute onset, generalized rigidity and dystonia after a brief trial of low dose neuroleptic therapy administered for psychotic symptoms. An unusual clinical feature of this case was the persistence of his movement disorder. Pathological examination revealed a generalized encephalitic process with substantial neuronal loss observed primarily in the medial and lateral globus pallidus. Correlation with a current model of basal ganglia pathophysiology and other disorders with pallidal lesions is discussed. Clinical and pathological features of this case confirm the previous contention and indicate that dopamine antagonists should be utilized with extreme caution in patients with ADC.

  11. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family

    NARCIS (Netherlands)

    Foncke, E.M.J.; Cath, D.; Zwinderman, K.; Smit, J.; Schmand, B.; Tijssen, M.

    2009-01-01

    AB Background: Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). In several M-D families, psychiatric symptoms accompanying the motor symptoms have been reported, but a shared genetic etiology remains unclear. Objective: To

  12. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

    NARCIS (Netherlands)

    DeVries, DD; Went, LN; Bruyn, GW; Scholte, HR; Hofstra, RMW; Bolhuis, PA; vanOost, BA

    1996-01-01

    A rare form of Leber hereditary optic neuropathy (LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family. Neuropathy and ophthalmological lesions were present together in some family members, whereas only one type of abnormality was found in others. mtDNA

  13. Pathologic changes in the brain in cervical dystonia pre- and post-mortem - a commentary with a special focus on the cerebellum

    NARCIS (Netherlands)

    Zoons, E; Tijssen, M A J

    2013-01-01

    In a recent issue of Experimental Neurology, Prudente et al. (2012) investigated the neuropathology of cervical dystonia in six patients. Their most important finding was a patchy loss of cerebellar Purkinje cells in the cerebellum. In this article we discuss their findings in the context of a revie

  14. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    DEFF Research Database (Denmark)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee

    2017-01-01

    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous...

  15. Incidence of tardive dyskinesia and tardive dystonia in African Caribbean patients on long-term antipsychotic treatment : The Curacao Extrapyramidal Syndromes Study V

    NARCIS (Netherlands)

    van Harten, Peter N.; Hoek, Hans W.; Matroos, Glenn E.; van Os, Jim

    2006-01-01

    Objective: Tardive dyskinesia (TD) and tardive dystonia (TDt) syndromes represent severe side effects of first-generation antipsychotics (FGAs). Although second-generation antipsychotics (SGAs) confer a lower risk for tardive syndromes, many patients continue to use FGAs alone or in combination with

  16. Treatment of inferior lateral pterygoid muscle dystonia with zolpidem tartrate, botulinum toxin injections, and physical self-regulation procedures: a case report.

    Science.gov (United States)

    Vazquez-Delgado, Eduardo; Okeson, Jeffrey P

    2004-10-01

    The following case report depicts the management of a patient suffering with a jaw opening oromandibular dystonia using a combination of botulinum toxin injections, zolpidem, and relaxation procedures. Eventually the botulinum toxin injections were eliminated, and the patient was maintained with only zolpidem and relaxation procedures.

  17. The sz mutant hamster: a genetic model of epilepsy or of paroxysmal dystonia?

    Science.gov (United States)

    Löscher, W; Fisher, J E; Schmidt, D; Fredow, G; Hönack, D; Iturrian, W B

    1989-01-01

    in these animals remain to be further clarified, but the data indicate that the sz mutant hamsters might represent an interesting genetic model for paroxysmal dystonia. In view of these data, we propose that the hamster mutation should be re-named dystonic and that the new gene symbol should be designated dtsz.

  18. A loud auditory stimulus overcomes voluntary movement limitation in cervical dystonia.

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    Tereza Serranová

    Full Text Available BACKGROUND: Patients with cervical dystonia (CD present with an impaired performance of voluntary neck movements, which are usually slow and limited. We hypothesized that such abnormality could involve defective preparation for task execution. Therefore, we examined motor preparation in CD patients using the StartReact method. In this test, a startling auditory stimulus (SAS is delivered unexpectedly at the time of the imperative signal (IS in a reaction time task to cause a faster execution of the prepared motor programme. We expected that CD patients would show an abnormal StartReact phenomenon. METHODS: Fifteen CD patients and 15 age matched control subjects (CS were asked to perform a rotational movement (RM to either side as quick as possible immediately after IS perception (a low intensity electrical stimulus to the II finger. In randomly interspersed test trials (25% a 130 dB SAS was delivered simultaneously with the IS. We recorded RMs in the horizontal plane with a high speed video camera (2.38 ms per frame in synchronization with the IS. The RM kinematic-parameters (latency, velocity, duration and amplitude were analyzed using video-editing software and screen protractor. Patients were asked to rate the difficulty of their RMs in a numerical rating scale. RESULTS: In control trials, CD patients executed slower RMs (repeated measures ANOVA, p<0.10(-5, and reached a smaller final head position angle relative to the midline (p<0.05, than CS. In test trials, SAS improved all RMs in both groups (p<0.10(-14. In addition, patients were more likely to reach beyond their baseline RM than CS (χ(2, p<0.001 and rated their performance better than in control trials (t-test, p<0.01. CONCLUSION: We found improvement of kinematic parameters and subjective perception of motor performance in CD patients with StartReact testing. Our results suggest that CD patients reach an adequate level of motor preparation before task execution.

  19. Tyrosine hydroxylase immunoreactivity and [{sup 3}H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

    Energy Technology Data Exchange (ETDEWEB)

    Nobrega, J.N. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Gernert, M.; Loescher, W. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany); Raymond, R.; Belej, T. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Richter, A. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany)

    1999-08-01

    Recent pharmacological studies and receptor analyses have suggested that dopamine neurotransmission is enhanced in mutant dystonic hamsters (dt{sup sz}), a model of idiopathic paroxysmal dystonia which displays attacks of generalized dystonia in response to mild stress. In order to further characterize the nature of dopamine alterations, the present study investigated possible changes in the number of dopaminergic neurons, as defined by tyrosine hydroxylase immunohistochemistry, as well as binding to the dopamine transporter labelled with [{sup 3}H]WIN 35,428 in dystonic hamsters. No differences in the number of tyrosine hydroxylase-immunoreactive neurons were found within the substantia nigra and ventral tegmental area of mutant hamsters compared to non-dystonic control hamsters. Similarly, under basal conditions, i.e. in the absence of a dystonic episode, no significant changes in [{sup 3}H]WIN 35,428 binding were detected in dystonic brains. However, in animals killed during the expression of severe dystonia, significant decreases in dopamine transporter binding became evident in the nucleus accumbens and ventral tegmental area in comparison to controls exposed to the same external stimulation. Since stimulation tended to increase [{sup 3}H]WIN 35,428 binding in control brains, the observed decrease in the ventral tegmental area appeared to be due primarily to the fact that binding was increased less in dystonic brains than in similarly stimulated control animals.This finding could reflect a diminished ability of the dopamine transporter to undergo adaptive changes in response to external stressful stimulation in mutant hamsters. The selective dopamine uptake inhibitor GBR 12909 (20 mg/kg) aggravated dystonia in mutant hamsters, further suggesting that acute alterations in dopamine transporter function during stimulation may be an important component of dystonia in this model. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved000.

  20. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Science.gov (United States)

    Tuschl, Karin; Meyer, Esther; Valdivia, Leonardo E.; Zhao, Ningning; Dadswell, Chris; Abdul-Sada, Alaa; Hung, Christina Y.; Simpson, Michael A.; Chong, W. K.; Jacques, Thomas S.; Woltjer, Randy L.; Eaton, Simon; Gregory, Allison; Sanford, Lynn; Kara, Eleanna; Houlden, Henry; Cuno, Stephan M.; Prokisch, Holger; Valletta, Lorella; Tiranti, Valeria; Younis, Rasha; Maher, Eamonn R.; Spencer, John; Straatman-Iwanowska, Ania; Gissen, Paul; Selim, Laila A. M.; Pintos-Morell, Guillem; Coroleu-Lletget, Wifredo; Mohammad, Shekeeb S.; Yoganathan, Sangeetha; Dale, Russell C.; Thomas, Maya; Rihel, Jason; Bodamer, Olaf A.; Enns, Caroline A.; Hayflick, Susan J.; Clayton, Peter T.; Mills, Philippa B.; Kurian, Manju A.; Wilson, Stephen W.

    2016-01-01

    Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates. PMID:27231142

  1. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

    Science.gov (United States)

    Haack, Tobias B; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A; Hayflick, Susan A; Venco, Paola; Tiranti, Valeria; Strom, Tim M; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J; Klopstock, Thomas

    2016-09-01

    SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. We confirmed absence of the SQSTM1/p62 protein in affected individuals' fibroblasts and found evidence of a defect in the early response to mitochondrial depolarization and autophagosome formation. Our findings expand the SQSTM1-associated phenotypic spectrum and lend further support to the concept of disturbed selective autophagy pathways in neurodegenerative diseases.

  2. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

    Science.gov (United States)

    Tuschl, Karin; Meyer, Esther; Valdivia, Leonardo E; Zhao, Ningning; Dadswell, Chris; Abdul-Sada, Alaa; Hung, Christina Y; Simpson, Michael A; Chong, W K; Jacques, Thomas S; Woltjer, Randy L; Eaton, Simon; Gregory, Allison; Sanford, Lynn; Kara, Eleanna; Houlden, Henry; Cuno, Stephan M; Prokisch, Holger; Valletta, Lorella; Tiranti, Valeria; Younis, Rasha; Maher, Eamonn R; Spencer, John; Straatman-Iwanowska, Ania; Gissen, Paul; Selim, Laila A M; Pintos-Morell, Guillem; Coroleu-Lletget, Wifredo; Mohammad, Shekeeb S; Yoganathan, Sangeetha; Dale, Russell C; Thomas, Maya; Rihel, Jason; Bodamer, Olaf A; Enns, Caroline A; Hayflick, Susan J; Clayton, Peter T; Mills, Philippa B; Kurian, Manju A; Wilson, Stephen W

    2016-05-27

    Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates.

  3. Pianism retraining via video conferencing as a means of assisting recovery from focal dystonia: a case study.

    Science.gov (United States)

    de Lisle, Rae; Speedy, Dale B; Thompson, John

    2010-09-01

    Focal dystonia (FD) is a devastating neurological condition which causes involuntary muscle contractions and often results in the loss of a musician's playing ability. Our study investigated whether retraining via video conferencing could be helpful in the treatment of a professional pianist with a 5-year history of FD. Although full recovery was not seen, improvement was observed at slow tempi, and his hand was visibly less cramped as training sessions progressed. We conclude that video conferencing could be an acceptable medium to assist pianism retraining in pianists with FD when location prevents on-site retraining. However, in this study it did not seem as effective as previously reported, similar, one-on-one retraining in the same location.

  4. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

    Science.gov (United States)

    Edvardson, Simon; Hama, Hiroko; Shaag, Avraham; Gomori, John Moshe; Berger, Itai; Soffer, Dov; Korman, Stanley H; Taustein, Ilana; Saada, Ann; Elpeleg, Orly

    2008-11-01

    Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. FA2H encodes the enzyme fatty acid 2-hydroxylase that catalyzes the 2-hydroxylation of myelin galactolipids, galactosylceramide, and its sulfated form, sulfatide. To our knowledge, this is the first identified deficiency of a lipid component of myelin and the clinical phenotype underscores the importance of the 2-hydroxylation of galactolipids for myelin maturation. In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted.

  5. The Cervical Dystonia Impact Profile (CDIP-58: Can a Rasch developed patient reported outcome measure satisfy traditional psychometric criteria?

    Directory of Open Access Journals (Sweden)

    Bhatia Kailash P

    2008-08-01

    Full Text Available Abstract Background The United States Food and Drug Administration (FDA are currently producing guidelines for the scientific adequacy of patient reported outcome measures (PROMs in clinical trials, which will have implications for the selection of scales used in future clinical trials. In this study, we examine how the Cervical Dystonia Impact Profile (CDIP-58, a rigorous Rasch measurement developed neurologic PROM, stands up to traditional psychometric criteria for three reasons: 1 provide traditional psychometric evidence for the CDIP-58 in line with proposed FDA guidelines; 2 enable researchers and clinicians to compare it with existing dystonia PROMs; and 3 help researchers and clinicians bridge the knowledge gap between old and new methods of reliability and validity testing. Methods We evaluated traditional psychometric properties of data quality, scaling assumptions, targeting, reliability and validity in a group of 391 people with CD. The main outcome measures used were the CDIP-58, Medical Outcome Study Short Form-36, the 28-item General Health Questionnaire, and Hospital and Anxiety and Depression Scale. Results A total of 391 people returned completed questionnaires (corrected response rate 87%. Analyses showed: 1 data quality was high (low missing data ≤ 4%, subscale scores could be computed for > 96% of the sample; 2 item groupings passed tests for scaling assumptions; 3 good targeting (except for the Sleep subscale, ceiling effect = 27%; 4 good reliability (Cronbach's alpha ≥ 0.92, test-retest intraclass correlations ≥ 0.83; and 5 validity was supported. Conclusion This study has shown that new psychometric methods can produce a PROM that stands up to traditional criteria and supports the clinical advantages of Rasch analysis.

  6. Repetitive transcranial magnetic stimulation in cervical dystonia: effect of site and repetition in a randomized pilot trial.

    Directory of Open Access Journals (Sweden)

    Sarah Pirio Richardson

    Full Text Available Dystonia is characterized by abnormal posturing due to sustained muscle contraction, which leads to pain and significant disability. New therapeutic targets are needed in this disorder. The objective of this randomized, sham-controlled, blinded exploratory study is to identify a specific motor system target for non-invasive neuromodulation and to evaluate this target in terms of safety and tolerability in the cervical dystonia (CD population. Eight CD subjects were given 15-minute sessions of low-frequency (0.2 Hz repetitive transcranial magnetic stimulation (rTMS over the primary motor cortex (MC, dorsal premotor cortex (dPM, supplementary motor area (SMA, anterior cingulate cortex (ACC and a sham condition with each session separated by at least two days. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS score was rated in a blinded fashion immediately pre- and post-intervention. Secondary outcomes included physiology and tolerability ratings. The mean change in TWSTRS severity score by site was 0.25 ± 1.7 (ACC, -2.9 ± 3.4 (dPM, -3.0 ± 4.8 (MC, -0.5 ± 1.1 (SHAM, and -1.5 ± 3.2 (SMA with negative numbers indicating improvement in symptom control. TWSTRS scores decreased from Session 1 (15.1 ± 5.1 to Session 5 (11.0 ± 7.6. The treatment was tolerable and safe. Physiology data were acquired on 6 of 8 subjects and showed no change over time. These results suggest rTMS can modulate CD symptoms. Both dPM and MC are areas to be targeted in further rTMS studies. The improvement in TWSTRS scores over time with multiple rTMS sessions deserves further evaluation.

  7. AbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis

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    Abogunrin S

    2015-09-01

    Full Text Available Seye Abogunrin,1 Sarah Brand,2 Kamal Desai,3 Jerome Dinet,4 Sylvie Gabriel,5 Timothy Harrower61Meta Research, Evidera, London, UK; 2Health Economics, Evidera, Bethesda, MD, USA; 3Health Economics, Evidera, London, UK; 4Health Economics and Outcomes Research (Global, 5Global Market Access and Pricing, Ipsen Pharma, Boulogne-Billancourt, France; 6Royal Devon and Exeter NHS Foundation Trust, Exeter, UKBackground: Cervical dystonia (CD can be effectively managed by a combination of botulinum neurotoxin A (BoNT-A and conventional therapy (skeletal muscle relaxants and rehabilitative therapy, but the costs of different interventions in the UK vary.Methods: A budget impact model was developed from the UK payer perspective with a 5-year time horizon to evaluate the effects of changing market shares of abobotulinumtoxinA, nabotulinumtoxinA, and incobotulinumtoxinA, and best supportive care from the UK payer perspective. Epidemiological and resource use data were retrieved from the published literature and clinical expert opinion. Deterministic sensitivity analyses were performed to determine the parameters most influential on the budgetary findings under base case assumptions.Results: Under base case assumptions, an increased uptake of abobotulinumtoxinA showed an accumulated savings of £2,250,992 by year 5. Treatment per patient per year with onabotulinumtoxinA and incobotulinumtoxinA costs more when compared to treatment with abobotulinumtoxinA. One-way sensitivity analyses showed that the prevalence of CD, dose per injection of each of the BoNT-As, and time to reinjection of incobotulinumtoxinA and abobotulinumtoxinA influenced the base case findings most.Conclusion: There is potential for cost savings associated with the greater use of abobotulinumtoxinA rather than other BoNT-A treatments, permitting more patients to benefit more from effective BoNT-A treatment with a fixed budget. Keywords: cervical dystonia, torticollis, botulinum toxin A, budget

  8. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...... have broad potentials for future research concerning migraine and dystonia-related diseases, which will contribute towards understanding the, yet unknown, pathophysiologies...

  9. Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.

    Science.gov (United States)

    Crespi, J; Bråthen, G; Quist-Paulsen, P; Pagonabarraga, J; Roig-Arnall, C

    2016-02-01

    A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism. A bone marrow biopsy showed an increased number of macrophages with foamy content, highly suggestive of lysosomal disease. Plasmatic chitotriosidase activity and CCL18 were increased. Genetic testing showed heterozygosis for the variation c.1070C→T (p.Ser357Leu) and c.1843→T (Arg615Cys), confirming the diagnosis of Niemann-Pick type C (NPC). The "Round the Houses" sign has only been described in patients with progressive supranuclear palsy (PSP). This sign is described as an inability to produce pure vertical saccades along the midline and instead moving the eyes in a lateral arc to accomplish the movement. The observation of this sign in a patient with NPC indicates that this bedside finding is not specific for PSP, but a sign of medial longitudinal fasciculus dysfunction. The presence of facial dystonia with facial grimacing together with supranuclear gaze palsy is highly characteristic and useful for the diagnosis of NPC. NPC is an important underdiagnosed condition, given the availability of treatment and a mean diagnostic delay of 6 years.

  10. The physical, social and emotional aspects are the most affected in the quality of life of the patients with cervical dystonia

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    Roberta Weber Werle

    2014-06-01

    Full Text Available Objective : Describe the functional, clinical and quality of life (QoL profiles in patients with cervical dystonia (CD with residual effect or without effect of botulinum toxin (BTX, as well as verify the existence of correlation between the level of motor impairment, pain and QoL. Method : Seventy patients were assessed through the Craniocervical dystonia questionnaire-24 (CDQ-24 and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS. Results : The greater the disability, pain and severity of dystonia, the worse the QoL (p<0.0001. Greater severity relates to greater disability (p<0.0001. Pain was present in 84% of the sample, being source of disability in 41%. The most frequent complaints were: difficulty in keeping up with professional and personal demands (74.3%, feeling uneasy in public (72.9%, hindered by pain (68.6%, depressed, annoyed or bitter (47.1%, lonely or isolated (32.9%. Conclusion : The physical, social and emotional aspects are the most affected in the QoL of these patients.

  11. Effect of low-frequency repetitive transcranial magnetic stimulation combined with physical therapy on L-dopa-induced painful off-period dystonia in Parkinson's disease.

    Science.gov (United States)

    Kodama, Mitsuhiko; Kasahara, Takashi; Hyodo, Masaki; Aono, Koji; Sugaya, Mutsumi; Koyama, Yuji; Hanayama, Kozo; Masakado, Yoshihisa

    2011-02-01

    Previous research has shown that low-frequency repetitive transcranial magnetic stimulation over the primary motor area and supplementary motor area can reduce L-dopa-induced dyskinesias in Parkinson's disease; however, it involved only patients with peak-dose or diphasic dyskinesia. We report a case of a patient with severely painful off-period dystonia in the unilateral lower limb who underwent 0.9-Hz subthreshold repetitive transcranial magnetic stimulation over contralateral primary motor area and supplementary motor area. Repetitive transcranial magnetic stimulation over the primary motor area significantly reduced the painful dystonia and walking disturbances but repetitive transcranial magnetic stimulation over the supplementary motor area did not. The cortical silent period also prolonged after repetitive transcranial magnetic stimulation over the primary motor area. At 5 mos of approximately once a week repetitive transcranial magnetic stimulation over the primary motor area, the Unified Parkinson's Disease Rating Scale motor score also improved. This report shows that repetitive transcranial magnetic stimulation over the inhibitory primary motor area can be useful for rehabilitating patients with Parkinson's disease with off-period dystonia and suggests that this treatment should be further verified in such patients.

  12. Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

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    Clecio Godeiro-Junior

    2008-12-01

    Full Text Available BACKGROUND: The association between Dystonia and Parkinson's disease (PD has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7 in the MSA group, 62.5% (n=5 in the PSP group, and 100% (n=8 in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50% and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um

  13. Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of DYT1 Dystonia.

    Science.gov (United States)

    D'Angelo, Vincenza; Castelli, Valentina; Giorgi, Mauro; Cardarelli, Silvia; Saverioni, Ilaria; Palumbo, Francesca; Bonsi, Paola; Pisani, Antonio; Giampà, Carmela; Sorge, Roberto; Biagioni, Stefano; Fusco, Francesca R; Sancesario, Giuseppe

    2017-02-22

    We report that changes of phosphodiesterase-10A (PDE10A) can map widespread functional imbalance of basal ganglia circuits in a mouse model of DYT1 dystonia overexpressing mutant torsinA. PDE10A is a key enzyme in the catabolism of second messenger cAMP and cGMP, whose synthesis is stimulated by D1 receptors and inhibited by D2 receptors preferentially expressed in striatoentopeducuncular/substantia nigra or striatopallidal pathways, respectively. PDE10A was studied in control mice (NT) and in mice carrying human wild-type torsinA (hWT) or mutant torsinA (hMT). Quantitative analysis of PDE10A expression was assessed in different brain areas by rabbit anti-PDE10A antibody immunohistochemistry and Western blotting. PDE10A-dependent cAMP hydrolyzing activity and PDE10A mRNA were also assessed. Striatopallidal neurons were identified by rabbit anti-enkephalin antibody.In NT mice, PDE10A is equally expressed in medium spiny striatal neurons and in their projections to entopeduncular nucleus/substantia nigra and to external globus pallidus. In hMT mice, PDE10A content selectively increases in enkephalin-positive striatal neuronal bodies; moreover, PDE10A expression and activity in hMT mice, compared with NT mice, significantly increase in globus pallidus but decrease in entopeduncular nucleus/substantia nigra. Similar changes of PDE10A occur in hWT mice, but such changes are not always significant. However, PDE10A mRNA expression appears comparable among NT, hWT, and hMT mice.In DYT1 transgenic mice, the inverse changes of PDE10A in striatoentopeduncular and striatopallidal projections might result over time in an imbalance between direct and indirect pathways for properly focusing movement. The decrease of PDE10A in the striatoentopeduncular/nigral projections might lead to increased intensity and duration of D1-stimulated cAMP/cGMP signaling; conversely, the increase of PDE10A in the striatopallidal projections might lead to increased intensity and duration of D2

  14. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].

    Science.gov (United States)

    Zhang, C L; Yin, F; He, F; Gai, N; Shi, Z Q; Peng, J

    2017-04-02

    Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed. Result: The proband boy was three years and four months old (April 2015) when he had the first attack of the disease. After a febricity, he suddenly acquired acute aphasia and limb movement disorder. Rehabilitation therapy and supportive treatment made his speech gradually recovered but still slurred. However, his abnormal walking posture still existed. Nine months later (January 2016, 4 years and one months old), symptoms including aphasia, dysphagia, and weakness with rostrocaudal gradient reoccured after fever. The disease progressed to the critical condition within 24 hours. He"seizured" four times with tonic spasms of limbs but without loss of consciousness. Family history showed his grandparents were consanguineous marriage. His mother and brother also developed abnormal gait and dysarthria after an infection before primary school age. Their symptoms improved gradually without relapsing. However, they did not recover entirely with mild intellectual disability. His mother had a healthy brother and sister. This proband had no other siblings but the brother. Heterozygous missense mutation p. R756H in ATP1A3 gene was detected in this proband, his mother and his brother. This mutation had been reported pathogenically related to RDP, and it located in highly conserved gene region. Benzodiazepine was used for

  15. Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial.

    Science.gov (United States)

    Poewe, Werner; Burbaud, Pierre; Castelnovo, Giovanni; Jost, Wolfgang H; Ceballos-Baumann, Andres O; Banach, Marta; Potulska-Chromik, Anna; Ferreira, Joaquim J; Bihari, Katalin; Ehler, Edvard; Bares, Martin; Dzyak, Lyudmyla A; Belova, Anna N; Pham, Emmanuel; Liu, Wenzhong Jerry; Picaut, Philippe

    2016-11-01

    Approved botulinum toxin A products require reconstitution. AbobotulinumtoxinA solution for injection is a ready-to-use liquid formulation of abobotulinumtoxinA. The objective of this study was to demonstrate the superior efficacy of abobotulinumtoxinA solution for injection to placebo and to test the noninferior efficacy of abobotulinumtoxinA solution for injection versus abobotulinumtoxinA (dry formulation) in cervical dystonia. This was a phase-3, multicenter, prospective, double-blind, randomized, active, and placebo-controlled study (N = 369). Patients with cervical dystonia were randomized (3:3:1) to abobotulinumtoxinA solution for injection 500 U, abobotulinumtoxinA 500 U, or placebo. Following the double-blind phase, patients received abobotulinumtoxinA solution for injection, open-label, for up to 4 cycles. The primary outcome was change from baseline at week 4 of the Toronto Western Spasmodic Torticollis Rating Scale total score. Secondary measures included change from baseline or cycle baseline in Toronto Western Spasmodic Torticollis Rating Scale scores. At week 4, both products were superior to placebo (Toronto Western Spasmodic Torticollis Rating Scale total score least square mean decrease from baseline, abobotulinumtoxinA solution for injection 500 U -12.5, abobotulinumtoxinA 500 U -14.0, placebo -3.9; P < .0001 vs placebo). The noninferiority limit of 3 points in the Toronto Western Spasmodic Torticollis Rating Scale total score at week 4 was not met for abobotulinumtoxinA solution for injection versus abobotulinumtoxinA. Toronto Western Spasmodic Torticollis Rating Scale total score reductions were maintained for up to 4 cycles of abobotulinumtoxinA solution for injection open-label follow-up treatment. Safety profiles of abobotulinumtoxinA solution for injection and abobotulinumtoxinA were similar, with dysphagia and injection-site pain the most frequent drug-related adverse events. Although the predefined noninferiority criterion was not

  16. EEG oscillatory patterns are associated with error prediction during music performance and are altered in musician's dystonia.

    Science.gov (United States)

    Ruiz, María Herrojo; Strübing, Felix; Jabusch, Hans-Christian; Altenmüller, Eckart

    2011-04-15

    Skilled performance requires the ability to monitor ongoing behavior, detect errors in advance and modify the performance accordingly. The acquisition of fast predictive mechanisms might be possible due to the extensive training characterizing expertise performance. Recent EEG studies on piano performance reported a negative event-related potential (ERP) triggered in the ACC 70 ms before performance errors (pitch errors due to incorrect keypress). This ERP component, termed pre-error related negativity (pre-ERN), was assumed to reflect processes of error detection in advance. However, some questions remained to be addressed: (i) Does the electrophysiological marker prior to errors reflect an error signal itself or is it related instead to the implementation of control mechanisms? (ii) Does the posterior frontomedial cortex (pFMC, including ACC) interact with other brain regions to implement control adjustments following motor prediction of an upcoming error? (iii) Can we gain insight into the electrophysiological correlates of error prediction and control by assessing the local neuronal synchronization and phase interaction among neuronal populations? (iv) Finally, are error detection and control mechanisms defective in pianists with musician's dystonia (MD), a focal task-specific dystonia resulting from dysfunction of the basal ganglia-thalamic-frontal circuits? Consequently, we investigated the EEG oscillatory and phase synchronization correlates of error detection and control during piano performances in healthy pianists and in a group of pianists with MD. In healthy pianists, the main outcomes were increased pre-error theta and beta band oscillations over the pFMC and 13-15 Hz phase synchronization, between the pFMC and the right lateral prefrontal cortex, which predicted corrective mechanisms. In MD patients, the pattern of phase synchronization appeared in a different frequency band (6-8 Hz) and correlated with the severity of the disorder. The present

  17. Effect of cervical dystonia on employment: A retrospective analysis of the ability of treatment to restore premorbid employment status.

    Science.gov (United States)

    Molho, Eric S; Agarwal, Nitendra; Regan, Katy; Higgins, Donald S; Factor, Stewart A

    2009-07-15

    Using a structured interview method, we sought to address the following questions regarding cervical dystonia (CD) and employment: (1) what is the frequency and severity of job impairment in CD; (2) what are the clinical features that contribute to job impairment; (3) how does the effectiveness of botulinum toxin (BTx) compare to oral medications in restoring employment status. In our population of 155 CD patients, employment was affected by CD in 53.3% (31.2% reduced hours or responsibilities, 3.3% changed to different job, 18.9% loss of employment) and 68.9% of patients reported reduced overall productivity. The likelihood of altered employment (P productivity (P BTx. Treatment with BTx was more likely to improve employment status than oral medications (66.1 vs. 18.5%) and much more likely to restore full employment with normal productivity (12.9 vs. 0.0%). These findings suggest that employment status is frequently affected by CD, particularly in patients withneck pain. BTx is significantly more effective than oral medications in restoring premorbid employment status. 2009 Movement Disorder Society.

  18. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

    Science.gov (United States)

    Osaka, Hitoshi; Takagi, Atsushi; Tsuyusaki, Yu; Wada, Takahito; Iai, Mizue; Yamashita, Sumimasa; Shimbo, Hiroko; Saitsu, Hirotomo; Salomons, Gajja S; Jakobs, Cornelis; Aida, Noriko; Toshihiro, Shinka; Kuhara, Tomiko; Matsumoto, Naomichi

    2012-05-01

    We report here a 6-year-old boy exhibiting severe dystonia, profound intellectual and developmental disability with liver disease, and sensorineural deafness. A deficient creatine peak in brain (1)H-MR spectroscopy and high ratio of creatine/creatinine concentration in his urine lead us to suspect a creatine transporter (solute carrier family 6, member 8; SLC6A8) deficiency, which was confirmed by the inability to take up creatine into fibroblasts. We found a large ~19 kb deletion encompassing exons 5-13 of SLC6A8 and exons 5-8 of the B-cell receptor-associated protein (BAP31) gene. This case is the first report in which the SLC6A8 and BAP31 genes are both deleted. The phenotype of BAP31 mutations has been reported only as a part of Xq28 deletion syndrome or contiguous ATP-binding cassette, sub-family D, member 1 (ABCD1)/DXS1375E (BAP31) deletion syndrome [MIM ID #300475], where liver dysfunction and sensorineural deafness have been suggested to be attributed to the loss of function of BAP31. Our case supports the idea that the loss of BAP31 is related to liver dysfunction and hearing loss.

  19. Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress.

    Directory of Open Access Journals (Sweden)

    Justin G Boyer

    Full Text Available Dystonin is a giant cytoskeletal protein belonging to the plakin protein family and is believed to crosslink the major filament systems in contractile cells. Previous work has demonstrated skeletal muscle defects in dystonin-deficient dystonia musculorum (dt mice. In this study, we show that the dystonin muscle isoform is localized at the Z-disc, the H zone, the sarcolemma and intercalated discs in cardiac tissue. Based on this localization pattern, we tested whether dystonin-deficiency leads to structural defects in cardiac muscle. Desmin intermediate filament, microfilament, and microtubule subcellular organization appeared normal in dt hearts. Nevertheless, increased transcript levels of atrial natriuretic factor (ANF, 66% beta-myosin heavy chain (beta-MHC, 95% and decreased levels of sarcoplasmic reticulum calcium pump isoform 2A (SERCA2a, 26%, all signs of cardiac muscle stress, were noted in dt hearts. Hearts from two-week old dt mice were assessed for the presence of morphological and histological alterations. Heart to body weight ratios as well as left ventricular wall thickness and left chamber volume measurements were similar between dt and wild-type control mice. Hearts from dt mice also displayed no signs of fibrosis or calcification. Taken together, our data provide new insights into the intricate structure of the sarcomere by situating dystonin in cardiac muscle fibers and suggest that dystonin does not significantly influence the structural organization of cardiac muscle fibers during early postnatal development.

  20. Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

    Directory of Open Access Journals (Sweden)

    Ioanna A Armata

    Full Text Available BACKGROUND: Mutations in the GCH1 gene are associated with childhood onset, dopa-responsive dystonia (DRD. Correct diagnosis of DRD is crucial, given the potential for complete recovery once treated with L-dopa. The majority of DRD associated mutations lie within the coding region of the GCH1 gene, but three additional single nucleotide sequence substitutions have been reported within the 5' untranslated (5'UTR region of the mRNA. The biologic significance of these 5'UTR GCH1 sequence substitutions has not been analyzed. METHODOLOGY/PRINCIPAL FINDINGS: Luciferase reporter assays, quantitative real time PCR and RNA decay assays, combined with bioinformatics, revealed a pathogenic 5'UTR GCH1 substitution. The +142C>T single nucleotide 5'UTR substitution that segregates with affected status in DRD patients, substantially attenuates translation without altering RNA expression levels or stability. The +142C>T substitution disrupts translation most likely by creating an upstream initiation start codon (uAUG and an upstream open reading frame (uORF. CONCLUSIONS/SIGNIFICANCE: This is the first GCH1 regulatory substitution reported to act at a post-transcriptional level, increasing the list of genetic diseases caused by abnormal translation and reaffirming the importance of investigating potential regulatory substitutions in genetic diseases.

  1. Quality of life in individuals with cervical dystonia before botulinum toxin injection in a Brazilian tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Mariana Ribeiro Queiroz

    2011-12-01

    Full Text Available OBJECTIVE: The purpose of this study was to evaluate quality of life (QoL in a Brazilian population of individuals with cervical dystonia (CD without effect of botulinum toxin (BTx or with only residual effect of BTx, and identify possible physical and social aspects that affect their QoL. METHOD: Sixty five out of sixty seven consecutive patients with CD were assessed with two instruments: Short-form Health Survey with 36 questions (SF-36 and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS. RESULTS: Severity of CD (TWSTRS correlated moderately with two SF-36 subscale: role-physical (r= -0.42 and body pain (r= -0.43. Women also scored worse in two subscale of SF-36: vitality (p<0.05 and mental-health (p<0.005. CONCLUSION: Severity of CD and gender (female were the main factors related to a worse QoL perception. These findings may help health professionals to predict which characteristics could lead to worse QoL, and therefore, better target their interventions to lessen the burden caused by CD.

  2. Rating scales for cervical dystonia: a critical evaluation of tools for outcome assessment of botulinum toxin therapy.

    Science.gov (United States)

    Jost, Wolfgang H; Hefter, Harald; Stenner, Andrea; Reichel, Gerhard

    2013-03-01

    Botulinum neurotoxin is the therapy of choice for all forms of cervical dystonia (CD), but treatment regimens still vary considerably. The interpretation of treatment outcome is mainly based on the clinical experience and on the scientific value of the rating scales applied. The aim of this review is to describe the historical development of rating scales for the assessment of CD and to provide an appraisal of their advantages and drawbacks. The Tsui score and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) have been widely employed in numerous clinical studies as specific instruments for CD. The obvious advantage of the Tsui score is its simplicity so that it can be easily implemented in clinical routine. The TWSTRS allows a more sophisticated assessment of functional features of CD, but only the Tsui score includes a rating for tremor. Other benefits of the TWSTRS are the disability and pain subscales, but despite its value in clinical trials, it might be too complex for routine clinical practice. None of the rating scales used at present has been rigorously tested for responsiveness to detect significant changes in clinical status after therapeutic interventions. Moreover, clinical data support a new classification of CD leading to a differentiation between head and neck subtypes. As the current rating scales are not able to cover all these aspects of the disorder, further research is needed to develop a valid and reliable instrument which considers the most current classification of CD.

  3. Developing a Deep Brain Stimulation Neuromodulation Network for Parkinson Disease, Essential Tremor, and Dystonia: Report of a Quality Improvement Project

    Science.gov (United States)

    O’Suilleabhain, Padraig E.; Sanghera, Manjit; Patel, Neepa; Khemani, Pravin; Lacritz, Laura H.; Chitnis, Shilpa; Whitworth, Louis A.; Dewey, Richard B.

    2016-01-01

    Objective To develop a process to improve patient outcomes from deep brain stimulation (DBS) surgery for Parkinson disease (PD), essential tremor (ET), and dystonia. Methods We employed standard quality improvement methodology using the Plan-Do-Study-Act process to improve patient selection, surgical DBS lead implantation, postoperative programming, and ongoing assessment of patient outcomes. Results The result of this quality improvement process was the development of a neuromodulation network. The key aspect of this program is rigorous patient assessment of both motor and non-motor outcomes tracked longitudinally using a REDCap database. We describe how this information is used to identify problems and to initiate Plan-Do-Study-Act cycles to address them. Preliminary outcomes data is presented for the cohort of PD and ET patients who have received surgery since the creation of the neuromodulation network. Conclusions Careful outcomes tracking is essential to ensure quality in a complex therapeutic endeavor like DBS surgery for movement disorders. The REDCap database system is well suited to store outcomes data for the purpose of ongoing quality assurance monitoring. PMID:27711133

  4. Treatment of Focal Dystonia with Botulismotoxin Type A%A型肉毒毒素治疗局限性肌张力障碍

    Institute of Scientific and Technical Information of China (English)

    吴裕臣; 万慧; 黄经纬

    2000-01-01

    摸索国产A型肉毒毒素(BTX-A)治疗局限性肌张力障碍之经验。方法:收集面肌痉挛30例,眼睑痉挛6例,Meige综合症3例,痉挛性斜颈2例,用CBTx-A局部注射治疗。结果:面肌痉挛,眼睑痉挛,Meige综合症.有效率100%,斜颈1例部分缓解。副作用较轻,包括眼脸下垂,面肌无力,吞咽障碍。结论:A型肉毒毒素治疗面肌痉挛,眼脸痉挛等局限性肌张力障碍疗效肯定,简便易行,副作用少,可作为该类疾病的首选治疗方法。%To evaluate the therapeutic effect of botulismotoxin type A (CBTX-A) for focal dystonia. Methods: Thirty patients with hemifacial spasm, Six with blephamspasm, three with Meige′s syndrome and two with cervical dystonia were treated using multifoeal injection of CBTX-A and their therapeutic efficacy were analyzed. Results: The effective rates of CBTX-A for the patients with hemifacial spasm, blepharospasm and Meige′s syndrome were 100%, and the syndrome of one patient with cervical dystonia was relieved partially.Mild side effects, including ptosis, weakness of facial muscles and dysphagia, were observed also. Conclusion:The results suggested that local injection of CBTX-A is a safe, effective, simple and the first line means for the treatment of focal muscular spasm.

  5. Establishing the definition and inter-rater reliability of cortical silent period calculation in subjects with focal hand dystonia and healthy controls.

    Science.gov (United States)

    Kimberley, Teresa Jacobson; Borich, Michael R; Prochaska, Kristina D; Mundfrom, Shannon L; Perkins, Ariel E; Poepping, Joseph M

    2009-10-23

    The purpose of this paper is to describe a clearly defined manual method for calculating cortical silent period (CSP) length that can be employed successfully and reliably by raters after minimal training in subjects with focal hand dystonia (FHD) and healthy subjects. A secondary purpose was to explore intra-subject variability of the CSP in subjects with FHD vs. healthy subjects. Two raters previously naïve to CSP identification and one experienced rater independently analyzed 170 CSP measurements collected in 6 subjects with focal hand dystonia (FHD) and 9 healthy subjects. Intraclass correlation coefficient (ICC) was calculated to quantify inter-rater reliability within the two groups of subjects. The relative variability of CSP in each group was calculated by the coefficient of variation (CV). Relative variation between raters within repeated measures of individual subjects was also quantified by CV. Reliability measures were as follows-mean of three raters: all subjects: ICC=0.976; within healthy subjects: ICC=0.965; in subjects with FHD: ICC=0.956. The median within-subject variability for the healthy group was CV=7.33% and in subjects with FHD:CV=11.78%. The median variability of calculating individual subject CSP duration between raters was CV=10.23% in subjects with dystonia and CV=10.46% in healthy subjects. Manual calculation of CSP results in excellent reliability between raters of varied levels of experience. Healthy subjects display less variability in CSP. Despite greater variability, the CSP in impaired subjects can be reliably calculated across raters.

  6. The technique of lessons of health jogging and running at special educational department of students with vegetative-vascular dystonia complicated by sight pathology.

    Directory of Open Access Journals (Sweden)

    Gatsko O.V.

    2011-08-01

    Full Text Available The article deals with original methodology of health jogging and running. 175 students participated in experiment. Adaptive possibilities of cardiovascular system and changes in physical ability of students are assessed in the research. Index dynamics of physical state is determined in the paper. The research focuses on the fact that repetitive exercisers with aerobics alongside adjusted exercises caused the rise in health condition of students with vegetative-vascular dystonia. It is established that such use of running and jogging in the special sturdy department's program of physical exercisers can materially correct arterial pressure and improve students' feeling of feet.

  7. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... patient symptoms and manifestations. Thus, it is interesting that mouse models targeting a specific -isoform cause different, although still comparable, phenotypes consistent with classical symptoms and other manifestations observed in FHM2 and RDP patients. This review highlights that use of mouse models...

  8. A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma

    Science.gov (United States)

    2013-01-01

    Background In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Methods Electrophysiological studies included bilateral electrical transcranial stimulation of the trigeminal roots, analysis of the jaw jerk reflex, recovery cycle of masseter inhibitory reflex, and a magnetic resonance imaging study of the brain. Results The neuromuscular responses of the left- and right-side bilateral trigeminal motor potentials showed a high degree of symmetry in latency (1.92 ms and 1.96 ms, respectively) and amplitude (11 mV and 11.4 mV, respectively), whereas the jaw jerk reflex amplitude of the right and left masseters was 5.1 mV and 8.9 mV, respectively. The test stimulus for the recovery cycle of masseter inhibitory reflex evoked both silent periods at an interstimulus interval of 150 ms. The duration of the second silent period evoked by the test stimulus was 61 ms and 54 ms on the right and left masseters, respectively, which was greater than that evoked by the conditioning stimulus (39 ms and 35 ms, respectively). Conclusions We found evidence of activation and peripheral sensitization of the nociceptive fibers, the primary and secondary nociceptive neurons in the central nervous system, and the endogenous pain control systems (including both the inhibitory and facilitatory processes), in the tested subject. These data suggest that bruxism and central orofacial pain can coexist, but are two independent symptoms, which may explain why numerous experimental and clinical studies fail to reach unequivocal conclusions. PMID:24165294

  9. Reduced Neck Muscle Strength and Altered Muscle Mechanical Properties in Cervical Dystonia Following Botulinum Neurotoxin Injections: A Prospective Study

    Directory of Open Access Journals (Sweden)

    Sirpa Mustalampi

    2016-01-01

    Full Text Available Objective To evaluate changes in the strength and mechanical properties of neck muscles and disability in patients with cervical dystonia (CD during a 12-week period following botulinum neurotoxin (BoNT injections. Methods Eight patients with CD volunteered for this prospective clinical cohort study. Patients had received BoNT injections regularly in neck muscles at three-month intervals for several years. Maximal isometric neck strength was measured by a dynamometer, and the mechanical properties of the splenius capitis were evaluated using two myotonometers. Clinical assessment was performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS before and at 2, 4, 8, and 12 weeks after the BoNT injections. Results Mean maximal isometric neck strength at two weeks after the BoNT injections decreased by 28% in extension, 25% in rotation of the affected side and 17% in flexion. At four weeks, muscle stiffness of the affected side decreased by 17% and tension decreased by 6%. At eight weeks, the muscle elasticity on the affected side increased by 12%. At two weeks after the BoNT injections, the TWSTRS-severity and TWSTRS-total scores decreased by 4.3 and 6.4, respectively. The strength, muscle mechanical properties and TWSTRS scores returned to baseline values at 12 weeks. Conclusions Although maximal neck strength and muscle tone decreased after BoNT injections, the disability improved. The changes observed after BoNT injections were temporary and returned to pre-injection levels within twelve weeks. Despite having a possible negative effect on function and decreasing neck strength, the BoNT injections improved the patients reported disability.

  10. Reduced Neck Muscle Strength and Altered Muscle Mechanical Properties in Cervical Dystonia Following Botulinum Neurotoxin Injections: A Prospective Study

    Science.gov (United States)

    Mustalampi, Sirpa; Ylinen, Jari; Korniloff, Katariina; Weir, Adam; Häkkinen, Arja

    2016-01-01

    Objective To evaluate changes in the strength and mechanical properties of neck muscles and disability in patients with cervical dystonia (CD) during a 12-week period following botulinum neurotoxin (BoNT) injections. Methods Eight patients with CD volunteered for this prospective clinical cohort study. Patients had received BoNT injections regularly in neck muscles at three-month intervals for several years. Maximal isometric neck strength was measured by a dynamometer, and the mechanical properties of the splenius capitis were evaluated using two myotonometers. Clinical assessment was performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) before and at 2, 4, 8, and 12 weeks after the BoNT injections. Results Mean maximal isometric neck strength at two weeks after the BoNT injections decreased by 28% in extension, 25% in rotation of the affected side and 17% in flexion. At four weeks, muscle stiffness of the affected side decreased by 17% and tension decreased by 6%. At eight weeks, the muscle elasticity on the affected side increased by 12%. At two weeks after the BoNT injections, the TWSTRS-severity and TWSTRS-total scores decreased by 4.3 and 6.4, respectively. The strength, muscle mechanical properties and TWSTRS scores returned to baseline values at 12 weeks. Conclusions Although maximal neck strength and muscle tone decreased after BoNT injections, the disability improved. The changes observed after BoNT injections were temporary and returned to pre-injection levels within twelve weeks. Despite having a possible negative effect on function and decreasing neck strength, the BoNT injections improved the patients reported disability. PMID:26828215

  11. A mixed treatment comparison to compare the efficacy and safety of botulinum toxin treatments for cervical dystonia.

    Science.gov (United States)

    Han, Yi; Stevens, Andrea L; Dashtipour, Khashayar; Hauser, Robert A; Mari, Zoltan

    2016-04-01

    A systematic pair-wise comparison of all available botulinum toxin serotype A and B treatments for cervical dystonia (CD) was conducted, as direct head-to-head clinical trial comparisons are lacking. Five botulinum toxin products: Dysport(®) (abobotulinumtoxinA), Botox(®) (onabotulinumtoxinA), Xeomin(®) (incobotulinumtoxinA), Prosigne(®) (Chinese botulinum toxin serotype A) and Myobloc(®) (rimabotulinumtoxinB) have demonstrated efficacy for managing CD. A pair-wise efficacy and safety comparison was performed for all toxins based on literature-reported clinical outcomes. Multi-armed randomized controlled trials (RCTs) were identified for inclusion using a systematic literature review, and assessed for comparability based on patient population and efficacy outcome measures. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) was selected as the efficacy outcome measurement for assessment. A mixed treatment comparison (MTC) was conducted using a Bayesian hierarchical model allowing indirect comparison of the interventions. Due to the limitation of available clinical data, this study only investigated the main effect of toxin treatments without explicitly considering potential confounding factors such as gender and formulation differences. There was reasonable agreement between the number of unconstrained data points, residual deviance and pair-wise results. This research suggests that all botulinum toxin serotype A and serotype B treatments were effective compared to placebo in treating CD, with the exception of Prosigne. Based on this MTC analysis, there is no significant efficacy difference between Dysport, Botox, Xeomin and Myobloc at week four post injection. Of the adverse events measured, neither dysphagia nor injection site pain was significantly greater in the treatment or placebo groups.

  12. Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

    Energy Technology Data Exchange (ETDEWEB)

    Demircioglu, F. Esra; Sosa, Brian A.; Ingram, Jessica; Ploegh, Hidde L.; Schwartz, Thomas U.

    2016-08-04

    The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two TorsinA ATPase activators: lamina-associated protein 1 (LAP1) and its paralog, luminal domain like LAP1 (LULL1). Using a nanobody as a crystallization chaperone, we obtained a 1.4 Å crystal structure of human TorsinA in complex with LULL1. This nanobody likewise stabilized the weakened TorsinAΔE-LULL1 interaction, which enabled us to solve its structure at 1.4 Å also. A comparison of these structures shows, in atomic detail, the subtle differences in activator interactions that separate the healthy from the diseased state. This information may provide a structural platform for drug development, as a small molecule that rescues TorsinAΔE could serve as a cure for primary dystonia.

  13. Localization of dystonic muscles using {sup 18}F-FDG PET/CT in idiopathic cervical dystonia

    Energy Technology Data Exchange (ETDEWEB)

    Choi, J. Y.; Seung, D. H.; Kim, D. H.; Kim, E. S.; Sohn, Y. I.; Choi, Y.; Choi, E. S.; Lee, K. H.; Kim, B. T. [Samsung Medical Center, Seoul (Korea, Republic of)

    2007-07-01

    Chemodenervation with botulinum toxin (BT) is regarded as a first-line treatment for idiopathic cervical dystonia (ICD), sometimes referred to as spasmodic torticollis. Moreover, because effective treatment involves the injection of BT into most dystonic muscles, the accurate localization of dystonic muscles is clinically important. In this preliminary study, we investigated whether {sup 18}F-FDG PET/CT is useful for localizing dystonic cervical muscles in ICD by comparing disease severity after and before BT injection into muscles determined to be hypermetabolic by PET/CT. Six consecutive patients (all males; age 37 16 y) underwent {sup 18}F-FDG PET/CT once (n = 4) or twice (n = 2) in a supine (n = 5) or sitting position (n = 3) during the {sup 18}F-FDG uptake period. Dystonic muscles suitable for BT injection therapy were defined as those showing diffusely increased {sup 18}F-FDG uptake. To evaluate response to BT injection, the Tsui scale and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) were applied. On PET/CT, hypermetabolic cervical muscles were identified in all 6 patients (3 in a supine position and 3 in a sitting position during {sup 18}F-FDG uptake periods). In 2 patients who underwent PET/CT in a supine and in a sitting position during 18F-FDG uptake, abnormal hypermetabolic muscles were observed only by PET/CT in a sitting position with patients heads and necks in the assumed abnormal involuntary posture. Symptoms were significantly improved, according to the Tsui (10.0 2.9 to 1.8 1.3, 82% reduction) and TWSTRS scales (severity: 21.3 2.1 to 5.8 5.3, 73% reduction; disability: 19.8 1.9 to 3.8 3.8, 81 % reduction) in all 4 patients who underwent BT injection therapy guided by PET/CT and who were clinically follow-up. {sup 18}F-FDG PET/CT is potentially useful for identifying dystonic cervical muscles in patients with ICD.

  14. Successful Treatment of Hemifacial Myokymia and Dystonia Associated to Linear Scleroderma “En Coup de Sabre” with Repeated Botox Injections

    Directory of Open Access Journals (Sweden)

    Carlos A. Cañas

    2012-01-01

    Full Text Available Linear scleroderma “en coup de sabre” (LSCS is a form of localized scleroderma presents as band-like sclerotic lesions of the frontoparietal area. It has been reported in association with diverse neurological manifestations like seizures, migraine, neuromyotonia, dystonia and abnormalities in MRI and CT studies as cerebral atrophy, white matter lesions, intraparenchymal calcification, meningeocortical alterations, and skull atrophy. We describe a patient with LSCS associated with two abnormal movements: permanent myokimia of right masseter muscle and recurrent spasmodic retraction of right cigomatic and depressor labii inferioris muscles. He was initially treated with methotrexate and steroids without response, so later on he underwent repeated Botox injections with remarkable improvement.

  15. Effects of cannabinoid CB(1) receptor agonism and antagonism on SKF81297-induced dyskinesia and haloperidol-induced dystonia in Cebus apella monkeys

    DEFF Research Database (Denmark)

    Madsen, Morten V; Peacock, Linda P; Werge, Thomas

    2011-01-01

    81297 (SKF) and acute dystonia induced by the dopamine D(2) receptor antagonist haloperidol in Cebus apella monkeys. The monkeys were sensitised to EPS by prior exposure to D(2) receptor antagonists. SKF (0.3 mg/kg) was administered alone and in combination with the CB(1) agonist CP55,940 (0.......0025-0.01 mg/kg) or the CB(1) antagonist SR141716A (0.25-0.75 mg/kg). Haloperidol (individual doses at 0.01-0.02 mg/kg) was administered alone and in combination with CP55,940 (0.005 or 0.01 mg/kg) or SR141716A (0.5 or 0.75 mg/kg). Subsequently, the monkeys were videotaped, and the recordings were rated...

  16. A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.

    Science.gov (United States)

    Liu, Yi Bessie; Tewari, Ambika; Salameh, Johnny; Arystarkhova, Elena; Hampton, Thomas G; Brashear, Allison; Ozelius, Laurie J; Khodakhah, Kamran; Sweadner, Kathleen J

    2015-12-24

    A new mutant mouse (lamb1t) exhibits intermittent dystonic hindlimb movements and postures when awake, and hyperextension when asleep. Experiments showed co-contraction of opposing muscle groups, and indicated that symptoms depended on the interaction of brain and spinal cord. SNP mapping and exome sequencing identified the dominant causative mutation in the Lamb1 gene. Laminins are extracellular matrix proteins, widely expressed but also known to be important in synapse structure and plasticity. In accordance, awake recording in the cerebellum detected abnormal output from a circuit of two Lamb1-expressing neurons, Purkinje cells and their deep cerebellar nucleus targets, during abnormal postures. We propose that dystonia-like symptoms result from lapses in descending inhibition, exposing excess activity in intrinsic spinal circuits that coordinate muscles. The mouse is a new model for testing how dysfunction in the CNS causes specific abnormal movements and postures.

  17. Impact of Injection-Guiding Techniques on the Effectiveness of Botulinum Toxin for the Treatment of Focal Spasticity and Dystonia: A Systematic Review.

    Science.gov (United States)

    Grigoriu, Anca-Irina; Dinomais, Mickael; Rémy-Néris, Olivier; Brochard, Sylvain

    2015-11-01

    To conduct a systematic review of the impact of different injection-guiding techniques on the effectiveness of botulinum toxin type A (BoNT-A) for the treatment of focal spasticity and dystonia. MEDLINE via PubMed, Academic Search Premier, PASCAL, The Cochrane Library, Scopus, SpringerLink, Web of Science, EM Premium, and PsycINFO. Two reviewers independently selected studies based on predetermined inclusion criteria. Data relating to the aim were extracted. Methodological quality was graded independently by 2 reviewers using the Physiotherapy Evidence Database assessment scale for randomized controlled trials (RCTs) and the Downs and Black evaluation tool for non-RCTs. Level of evidence was determined using the modified Sackett scale. Ten studies were included. Seven were randomized. There was strong evidence (level 1) that instrumented guiding (ultrasonography [US], electrical stimulation [ES], electromyogram [EMG]) was more effective than manual needle placement for the treatment of spasmodic torticollis, upper limb spasticity, and spastic equinus in patients with stroke, and spastic equinus in children with cerebral palsy. Three studies provided strong evidence (level 1) of similar effectiveness of US and ES for upper and lower limb spasticity in patients with stroke, and spastic equinus in children with cerebral palsy, but there was poor evidence or no available evidence for EMG or other instrumented techniques. These results strongly recommend instrumented guidance of BoNT-A injection for the treatment of spasticity in adults and children (ES or US), and of focal dystonia such as spasmodic torticollis (EMG). No specific recommendations can be made regarding the choice of instrumented guiding technique, except that US appears to be more effective than ES for spastic equinus in adults with stroke. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  18. DYT6型肌张力障碍患者的临床表现和影像学特点%Clinical and radiological features in patients with DYT6 dystonia

    Institute of Scientific and Technical Information of China (English)

    王琳; 万新华; 成伏波; 杨英麦; 马凌燕; 崔丽英

    2013-01-01

    Objective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations

  19. Current status of cannabis treatment of multiple sclerosis with an illustrative case presentation of a patient with MS, complex vocal tics, paroxysmal dystonia, and marijuana dependence treated with dronabinol.

    Science.gov (United States)

    Deutsch, Stephen I; Rosse, Richard B; Connor, Julie M; Burket, Jessica A; Murphy, Mary E; Fox, Fiona J

    2008-05-01

    Pain, spasticity, tremor, spasms, poor sleep quality, and bladder and bowel dysfunction, among other symptoms, contribute significantly to the disability and impaired quality of life of many patients with multiple sclerosis (MS). Motor symptoms referable to the basal ganglia, especially paroxysmal dystonia, occur rarely and contribute to the experience of distress. A substantial percentage of patients with MS report subjective benefit from what is often illicit abuse of extracts of the Cannabis sativa plant; the main cannabinoids include delta-9-tetrahydrocannabinol (delta9-THC) and cannabidiol. Clinical trials of cannabis plant extracts and synthetic delta9-THC provide support for therapeutic benefit on at least some patient self-report measures. An illustrative case is presented of a 52-year-old woman with MS, paroxysmal dystonia, complex vocal tics, and marijuana dependence. The patient was started on an empirical trial of dronabinol, an encapsulated form of synthetic delta9-THC that is usually prescribed as an adjunctive medication for patients undergoing cancer chemotherapy. The patient reported a dramatic reduction of craving and illicit use; she did not experience the "high" on the prescribed medication. She also reported an improvement in the quality of her sleep with diminished awakenings during the night, decreased vocalizations, and the tension associated with their emission, decreased anxiety and a decreased frequency of paroxysmal dystonia.

  20. Distonias: aspectos clínicos e terapêuticos em 64 pacientes Dystonias: clinical and therapeutic features in 64 patients

    Directory of Open Access Journals (Sweden)

    James Pitágoras de Mattos

    1996-03-01

    Full Text Available Os Autores apresentam a experiência em 64 pacientes, com as várias formas clínicas de apresentação de distonias, acompanhados no Setor de Doenças Extrapiramidais do Serviço de Neurologia do Hospital Universitário Clementino Fraga Filho da UFRJ, assim como, revisam a literatura, cotejando os resultados. O acompanhamento desses pacientes durante 5 anos e 6 meses resultou nas seguintes observações: 33 do sexo masculino e 31 do feminino; 48 brancos, 10 pardos e 6 negros; a média do tempo de doença foi 9 anos e 8 meses. Quanto à distribuição do movimento anormal, 30 (46,9% eram focais; 17 (26,6%, segmentares; 13 (20,3%, generalizadas; 3 (4,7%, hemidistonias; 1 (1,5%, multifocal. Quanto à idade de início, em 11 (17,2% se apresentou antes dos 12 anos; em 6 (9,4%, entre 13 e 20 anos; e em 47 (73,4%, após os 20 anos. Correspondiam à origem idiopática esporádica, 39 (60,9%; idiopática familiar, 6 (9,4%; sintomática, 19 (29,7%. No que se refere à abordagem terapêutica destes pacientes, destacamos o emprego de anticolinérgicos, de agonistas e antagonistas dopaminérgicos e do baclofen isolado ou associado aos anticolinérgicos para as formas generalizadas. Para as distonias focais, os Autores concluem ser a toxina botulínica do tipo A o agente terapêutico mais eficaz aconselhado atualmente.The experience with 64 patients with dystonia seen at the Extrapyramidal Diseases Sector of the Neurology Department of the Hospital Universitário Clementino Fraga Filho of the UFRJ is presented as well as the pertinent review of the literature. The five-and-a-half-year of follow-up showed that 33 were male and 31 female; 48 were white, 10 mulatto and 6 negro; the mean time of disease was 9 years and 8 months. According to the distribution of the movement disorder, 30 (46.9% were focal, 17 (26.6% segmental, 13 (20.3% generalized, 3 (4.7% hemidystonia and 1 (1.5% multifocal. In 11 (17.2% the age of onset was before 12 years old, in 6 (9

  1. Progress in studies on tardive dystonia induced by antipsychotic drugs%抗精神病药物引起的迟发性肌张力障碍研究进展

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 于相芬

    2012-01-01

    迟发性肌张力障碍(TDt)是长期应用抗精神病药物引起的锥体外系症状之一.据报道,发生率为2.7%~5.3%.临床主要表现为单个或多个随意肌自主运动困难,或因自主运动困难所致姿势异常.发病机制一般认为是多巴胺神经递质的持久抑制引起突触后多巴胺受体敏感性过度增高所致或与抗精神病药的抗去甲肾上腺素能效应有关.TDt须与急性肌张力障碍、迟发性运动障碍、特发性肌张力障碍、继发性肌张力障碍,家族性肌张力障碍、转换症状等进行鉴别诊断.一旦发生TDt应停药,换用非典型抗精神病药或其他药物治疗,或进行脑深部电刺激治疗.经治疗后症状可能有所改善.%Objective; Tardive dystonia (TDt) is one of extrapyramidal symptoms that starts after long-term use of antipsychotic drugs. It has been reported that the incidence of TDt ranged from 2.7% to 5. 3%. Its main clinical feature is that voluntary movements of one or more voluntary muscles are difficult , or abnormal postures because of difficult voluntary movements . The mechanism of TDt is generally considered to be associated with postsynaptic dopamine receptor supersensitivity caused by sustained inhibition of the dopaminergic neurotransmission or anti-noradrenergic effect of antipsychotics . TDt should be distinguished from acute dystonia , tardive dyskinesia, idiopathic dystonia, secondary dystonia, familial dystonia and conversion symptoms. Once TDt developed, dopamine receptor antagonists should be stopped , atypical antipsychotic drugs or other drugs or deep brain stimulation could be used . Symptoms might improve after such treatment.

  2. Research Progress in Acupuncture Therapy on Dystonia%针刺疗法治疗肌张力改变的研究进展

    Institute of Scientific and Technical Information of China (English)

    叶晨; 葛林宝; 陈春艳

    2015-01-01

    综述近20年来针刺疗法治疗肌张力改变疾病的文献,分别从体针、穴位注射、头针三方面总结针刺疗法对肌张力的机制及其疗效。针刺疗法治疗此类疾病可取得较好的临床疗效,但缺乏实验数据支撑,今后应加强针刺疗法对肌张力改变疾病的规范化及科学化临床研究。%This article reviews literature in the past 20 years of acupuncture therapy on dystonia, respectively summarizing the mechanism and cura-tive effect of acupuncture on muscular tension from body acupuncture, acupoint injection and scalp acupuncture. Acupuncture therapy on these kinds of disease can get better efficacy, but lacking support of experimental data, standardization and scientific clinical research of acupuncture therapy on muscular tension changing disease should be strengthened.

  3. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

    Energy Technology Data Exchange (ETDEWEB)

    De Vries, D.D.; Oost, B.A. van [Univ. Hospital Nijmegen (Netherlands); Went, L.N.; Bruyn, G.W. [Univ. of Leiden (Netherlands)] [and others

    1996-04-01

    A rare form of Leber hereditary optic neuropathy (LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family. Neuropathy and ophthalmological lesions were present together in some family members, whereas only one type of abnormality was found in others. mtDNA mutations previously reported in LHON were not present. Sequence analysis of the protein-coding mitochondrial genes revealed two previously unreported mtDNA mutations. A heteroplasmic A{yields}G transition at nucleotide position 11696 in the ND4 gene resulted in the substitution of an isoleucine for valine at amino acid position 312. A second mutation, a homoplasmic T{yields}A transition at nucleotide position 14596 in the ND6 gene, resulted in the substitution of a methionine for the isoleucine at amino acid residue 26. Biochemical analysis of a muscle biopsy revealed a severe complex I deficiency, providing a link between these unique mtDNA mutations and this rare, complex phenotype including Leber optic neuropathy. 80 refs., 2 figs., 3 tabs.

  4. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Directory of Open Access Journals (Sweden)

    Celia Zazo Seco

    2017-02-01

    Full Text Available A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*, in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

  5. Determining Whether a Definitive Causal Relationship Exists Between Aripiprazole and Tardive Dyskinesia and/or Dystonia in Patients With Major Depressive Disorder, Part 4: Case Report Data.

    Science.gov (United States)

    Macaluso, Matthew; Flynn, Alexandra; Preskorn, Sheldon

    2016-05-01

    This series of columns has 3 main goals: (1) to explain class warnings as used by the United States Food and Drug Administration, (2) to increase awareness of movement disorders that may occur in patients treated with antipsychotic medications, and (3) to understand why clinicians should refrain from immediately assuming a diagnosis of tardive dyskinesia/dystonia (TD) in patients who develop abnormal movements during treatment with antipsychotics. The first column in the series presented a patient who developed abnormal movements while being treated with aripiprazole as an augmentation strategy for major depressive disorder and reviewed data concerning the historical background, incidence, prevalence, and risk factors for tardive and spontaneous dyskinesias, the clinical presentations of which closely resemble each other. The second column in the series reviewed the unique mechanism of action of aripiprazole and reviewed preclinical studies and an early-phase human translational study that suggest a low, if not absent, risk of TD with aripiprazole. The third column in this series reviewed the registration trial data for aripiprazole across all of its indications and found a raw incidence of TD ranging from 0.004 (4 out of 987) in long-term studies of the drug as an augmentation strategy for major depressive disorder to 0.0016 (19 out of 11,897) based on all short-term (ie, weeks to causal relationship between aripiprazole and TD exists.

  6. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

    Science.gov (United States)

    Cacciagli, Pierre; Sutera-Sardo, Julie; Borges-Correia, Ana; Roux, Jean-Christophe; Dorboz, Imen; Desvignes, Jean-Pierre; Badens, Catherine; Delepine, Marc; Lathrop, Mark; Cau, Pierre; Lévy, Nicolas; Girard, Nadine; Sarda, Pierre; Boespflug-Tanguy, Odile; Villard, Laurent

    2013-09-05

    BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. BAP31 is encoded by BCAP31, located in human Xq28 and highly expressed in neurons. We identified loss-of-function mutations in BCAP31 in seven individuals from three families. These persons suffered from motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes, which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments, we demonstrate that constitutive BCAP31 deficiency does not activate the unfolded protein response or cell-death effectors. Rather, our data demonstrate that the lack of BAP31 disturbs ER metabolism and impacts the Golgi apparatus, highlighting an important role for BAP31 in ER-to-Golgi crosstalk. These findings provide a molecular basis for a Mendelian syndrome and link intracellular protein trafficking to severe congenital brain dysfunction and deafness.

  7. Distonia laríngea: relato de caso e tratamento com toxina botulínica Laryngeal dystonia: case report and treatment with botulinum toxin

    Directory of Open Access Journals (Sweden)

    Victor José Barbosa Santos

    2006-06-01

    Full Text Available Distonia laríngea, ou disfonia espasmódica, é caracterizada por contrações involuntárias e inapropriadas da musculatura responsável pela fonação, sendo a do tipo adutora a mais comum. Caracteriza-se por quebras fonatórias, sendo seu diagnóstico confirmado por videolaringoestroboscopia. O tratamento de escolha é feito com a aplicação direta de toxina botulínica nos músculos responsáveis pelo movimento incoordenado. O objetivo desse trabalho é relatar o caso de uma paciente com diagnóstico de distonia laríngea do tipo adutora, tratada com toxina botulínica e discutir as vantagens e observações descritas na literatura a respeito desse tratamento.Laryngeal dystonia or spasmodic dysphonia is characterized by involuntary and innapropiate spasms of vocal muscles, having the adductor type as the most common one. It is chacterized by strain-strangled voice with pitch breaks. Diagnosis is made by means of videolaryngostroboscopic exam. The treatment of choice is done with botulinum toxin directly injected in the muscles responsible for the mismatched movement. The aim of this study is to report on an adductor- type dysphonia patient and to discuss the advantages and observations about this treatment reported in the literature.

  8. Comparison between {sup 18}F-FDG PET/CT and EMG Mapping for Identifying Dystonic Superficial Muscles in Primary Cervical Dystonia: Preliminary Results

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Su Jin [Seoul National University School, Seoul (Korea, Republic of); Choi, Joon Young; Sung, Duk Hyun; Park, Kwang Hong; Lee, Ji Young; Cho, Sook Kyung; Yu, Jang; Lee, Kyung Han; Kim, Byung Tae [Sungkyunkawn University School of Medicine, Seoul (Korea, Republic of)

    2010-04-15

    This study was conducted to compare {sup 18}F-FDG PET/CT and electromyography (EMG) mapping in patients with primary cervical dystonia (PCD) to find dystonic superficial cervical muscles. Ten consecutive patients with PCD (M:F=5:5, age 44{+-}13 years) whose dystonic posture was not relieved with conventional muscle relaxant therapy were included. Target cervical muscles for the comparison between {sup 18}F-FDG PET/CT and EMG mapping were four representative superficial bilateral cervical muscles: splenius capitis muscle, sternocleidomstoid muscle, upper trapeziums muscle, and levitator scapulae muscle. The diagnostic efficacy was compared between {sup 18}F-FDG PET/CT and EMG mapping using physical exam and measurement of rotation angle as the gold standard. Among 80 muscles evaluated, there were 21 (26%) dystonic superficial cervical muscles assessed with physical exam and motion analysis. The sensitivity, specificity, and accuracy for localizing dystonic muscles were 76, 92, and 88% for {sup 18}F-FDG PET/CT, and 95, 66, and 74% for EMG mapping, respectively. The sensitivity of EMG mapping was significantly higher than that of {sup 18}F-FDG PET/CT. In contrast, {sup 18}F-FDG PET/CT is more specific and accurate than EMG mapping for finding superficial dystonic cervical muscles. The high sensitivity of EMG mapping suggests that {sup 18}F-FDG PET/CT and EMG mapping are complementary for finding dystonic superficial cervical muscles.

  9. A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

    Science.gov (United States)

    Nakamura, Kotoka; Fike, Francesca; Haghayegh, Sara; Saunders-Pullman, Rachel; Dawson, Angelika J; Dörk, Thilo; Gatti, Richard A

    2014-07-01

    We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. This report provides the pathogenetic evidence for this mutation on cellular functions. Several patients have developed cancer and subsequently experienced life-threatening adverse reactions to radiation (radiotoxicity) and/or chemotherapy. As the c.6200C>A mutation is, thus far, unique to the Mennonite population and is always associated with the same haplotype or haplovariant, it was important to rule out any possible confounding DNA variant on the same haplotype. Lymphoblastoid cells derived from Mennonite patients expressed small amounts of ATM protein, which had no autophosphorylation activity at ATM Ser1981, and trace-to-absent transphosphorylation of downstream ATM targets. A-T lymphoblastoid cells stably transfected with ATM cDNA which had been mutated for c.6200C>A did not show a detectable amount of ATM protein. The same stable cell line with mutated ATM cDNA also showed a trace-to-absent transphosphorylation of downstream ATM targets SMC1pSer966 and KAP1pSer824. From these results, we conclude that c.6200A is the disease-causing ATM mutation on this haplotype. The presence of at least trace amounts of ATM kinase activity on some immunoblots may account for the late-onset, mild ataxia of these patients. The cause of the dystonia remains unclear. Because this dystonia-ataxia phenotype is often encountered in the Mennonite population in association with cancer and adverse reactions to chemotherapy, an early diagnosis is important.

  10. Results by motor cortex stimulation in treatment of focal dystonia, Parkinson's disease and post-ictal spasticity. The experience of the Italian Study Group of the Italian Neurosurgical Society.

    Science.gov (United States)

    Pagni, C A; Albanese, A; Bentivoglio, A; Broggi, G; Canavero, S; Cioni, B; Rose, M D; Simone, C D; Franzini, A; Lavano, A; Landi, A; Meglio, M; Modugno, M; Romanelli, L; Romito, L M; Sturiale, C; Valzania, F; Zeme, S; Zenga, F

    2008-01-01

    Extradural motor cortex stimulation has been employed in cases of Parkinson's disease (PD), fixed dystonia (FD) and spastic hemiparesis (SH) following cerebral stroke. Symptoms of PD are improved by EMCS: results were evaluated on the basis of the UPDRS and statistically analysed. In PD EMCS is less efficacious than bilateral subthalamic nucleus (STN) stimulation, but it may be safely employed in patients not eligible for deep brain stimulation (DBS). The most rewarding effect is the improvement, in severely affected patients, of posture and gait. FD, unresponsive to bilateral pallidal stimulation, has been relieved by EDMS. In SH reduction of spasticiy by EMCS allows improvement of the motor function.

  11. Distonia aguda relacionada ao uso de bromoprida em pacientes pediátricos Acute dystonia after use of bromopride in pediatric patients

    Directory of Open Access Journals (Sweden)

    Eliane Roseli Barreira

    2009-03-01

    Full Text Available OBJETIVO: Descrever dois casos de distonia aguda após uso de bromoprida em crianças e realizar revisão da literatura em relação aos mecanismos fisiopatológicos de indução de liberação extrapiramidal, sua sintomatologia e tratamento. DESCRIÇÃO DO CASO: Caso 1: adolescente de 13 anos com quadro de dor e hipertonia cervical associados a febre, náuseas e vômitos, com hipótese inicial de meningite. A investigação subsequente revelou que o quadro iniciou-se após ingestão de uma única dose de bromoprida. O paciente apresentou boa resposta ao tratamento com difenidramina, sem necessidade de coleta de líquor. Caso 2: Lactente de seis meses que desenvolveu sintomas graves de liberação extrapiramidal relacionados à superdosagem de bromoprida, com reversão rápida dos sintomas após administração de biperideno. COMETÁRIOS: Este é o primeiro relato de distonia aguda após uso de bromoprida em crianças. Embora muito utilizada no Brasil como agente pró-cinético e antiemético, nenhum estudo clínico até o momento demonstrou melhor perfil de segurança da bromoprida em relação aos demais antieméticos antagonistas da dopamina. Até que tais estudos sejam realizados, sugere-se cautela na prescrição de bromoprida. Medidas não-farmacológicas devem ser recomendadas no tratamento de vômitos e da doença do refluxo gastresofágico. Quando o tratamento farmacológico for indispensável, deve-se dar preferência a drogas com perfil de segurança mais bem estabelecido.OBJECTIVE: To report the case of two patients with acute dystonia induced by bromopride in children, followed by a review of the mechanisms of induction of movement disorders by antidopaminergic anti-emetic drugs, its clinical symptoms and treatment. CASE DESCRIPTION: Case 1: a 13 years old teenager who developed acute hypertonia and neck pain associated to fever and vomiting, suggestive of meningitis. Further investigation revealed that symptoms were associated with

  12. A multifactorial conceptual model of peripheral neuromusculoskeletal predisposing factors in task-specific focal hand dystonia in musicians: etiologic and therapeutic implications.

    Science.gov (United States)

    Leijnse, J N A L; Hallett, M; Sonneveld, G J

    2015-02-01

    A model is presented showing how peripheral factors may cause a process of movement adaptation that leads to task-specific focal hand dystonia in musicians (FHDM). To acquire a playing technique, the hand must find effective and physiologically sustainable movements within a complex set of functional demands and anatomic, ergonomic, and physiological constraints. In doing so, individually discriminating constraints may become effective, such as limited anatomic independence of finger muscles/tendons, limited joint ranges of motion, or (subclinical) neuromusculoskeletal defects. These factors may, depending on the instrument-specific playing requirements, compromise or exclude functional playing movements. The controller (i.e., the brain) then needs to develop alternative motions to execute the task, which is called compensation. We hypothesize that, if this compensation process does not converge to physiologically sustainable muscle activation patterns that satisfy all constraints, compensation could increase indefinitely under the pressure of practice. Dystonic symptoms would become manifest when overcompensation occurs, resulting in motor patterns that fail in proper task execution. The model presented in this paper only concerns the compensatory processes preceding such overcompensations and does not aim to explain the nature of the dystonic motions themselves. While the model considers normal learning processes in the development of compensations, neurological predispositions could facilitate developing overcompensations or further abnormal motor programs. The model predicts that if peripheral factors are involved, FHDM symptoms would be preceded by long-term gradual changes in playing movements, which could be validated by prospective studies. Furthermore, the model implies that treatment success might be enhanced by addressing the conflict between peripheral factors and playing tasks before decompensating/retraining the affected movements.

  13. Determining Whether a Definitive Causal Relationship Exists Between Aripiprazole and Tardive Dyskinesia and/or Dystonia in Patients With Major Depressive Disorder: Part 1.

    Science.gov (United States)

    Preskorn, Sheldon; Flynn, Alexandra; Macaluso, Matthew

    2015-09-01

    This series of columns has 2 main goals: (1) to explain the use of class warnings by the US Food and Drug Administration and (2) to increase clinicians' awareness of movement disorders that may occur in patients being treated with antipsychotic medications and why it is appropriate and good practice to refrain from immediately assuming the diagnosis is tardive dyskinesia/dystonia (TD). This first column in the series will focus on the second goal, which will then serve as a case example for the first goal. Clinicians should refrain from jumping to a diagnosis of TD because a host of other causes need to be ruled out first before inferring iatrogenic causation. The causal relationship between chronic treatment with dopamine antagonists and TD is based on pharmacoepidemiology (ie, the prevalence of such movement disorders is higher in individuals receiving chronic treatment with such agents than in a control group). There is nothing pathognomonic about movement disorders, nor is there any test that can currently prove a drug caused a movement disorder in a specific individual. Another goal of this series is to describe the types of research that would be needed to establish whether a specific agent has a meaningful risk of causing TD. In this first column of the series, we present the case of a patient who developed orofacial dyskinesia while being treated with aripiprazole. In this case, the movement disorder was prematurely called TD, which led to a malpractice lawsuit. This case highlights a number of key questions clinicians are likely to encounter in day-to-day practice. We then review data concerning the historical background, incidence, prevalence, and risk factors for 2 movement disorders, TD and spontaneous dyskinesia. Subsequent columns in this series will review: (1) unique aspects of the psychopharmacology of aripiprazole, (2) the limited and inconsistent data in the literature concerning the causal relationship between aripiprazole and TD, (3) the use of

  14. X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.

    Science.gov (United States)

    Herzfeld, Thilo; Nolte, Dagmar; Grznarova, Maria; Hofmann, Andrea; Schultze, Joachim L; Müller, Ulrich

    2013-03-01

    X-chromosomal dystonia parkinsonism syndrome (XDP, 'lubag') is associated with sequence changes within the TAF1/DYT3 multiple transcript system. Although most sequence changes are intronic, one, disease-specific single-nucleotide change 3 (DSC3), is located within an exon (d4). Transcribed exon d4 occurs as part of multiple splice variants. These variants include exons d3 and d4 spliced to exons of TAF1, and an independent transcript composed of exons d2-d4. Location of DSC3 in exon d4 and utilization of this exon in multiple splice variants suggest an important role of DSC3 in the XDP pathogenesis. To test this hypothesis, we transfected neuroblastoma cells with four expression constructs, including exons d2-d4 [d2-d4/wild-type (wt) and d2-d4/DSC3] and d3-d4 (d3-d4/wt and d3-d4/DSC3). Expression profiling revealed a dramatic effect of DSC3 on overall gene expression. Three hundred and sixty-two genes differed between cells containing d2-d4/wt and d2-d4/DSC3. Annotation clustering revealed enrichment of genes related to vesicular transport, dopamine metabolism, synapse function, Ca(2+) metabolism and oxidative stress. Two hundred and eleven genes were differentially expressed in d3-d4/wt versus d3-d4/DSC3. Annotation clustering highlighted genes in signal transduction and cell-cell interaction. The data show an important role of physiologically occurring transcript d2-d4 in normal brain function. Interference with this role by DSC3 is a likely pathological mechanism in XDP. Disturbance of dopamine function and of Ca(2+) metabolism can explain abnormal movement; loss of protection against reactive oxygen species may account for the neurodegenerative changes in XDP. Although d3-d4 also affect genes potentially related to neurodegenerative processes, their physiologic role as splice variants of TAF1 awaits further exploration.

  15. 痉挛性斜颈和特发性头部震颤的临床研究%Clinical study on cervical dystonia and essential head tremor

    Institute of Scientific and Technical Information of China (English)

    刘宁疆; 张本恕

    2014-01-01

    目的:对比痉挛性斜颈(CD)患者中存在头部震颤组[HT(+)组],无头部震颤组[HT (-)组]和特发性头部震颤组(ET组)三组患者的临床特点。方法用回顾性的方法观察自1982年8月至2012年10月期间就诊于天津医科大学总医院神经内科门诊的188例CD患者,其中HT(+)组57例,HT(-)组59例和72例ET病例的临床表现,病程发展过程和家族史。分组和诊断标准依据肌张力障碍性震颤和特发性震颤的诊断标准。使用χ2和方差分析进行统计学分析。结果三组患者中,其中HT(+)组女性患者发病率高于HT(-)组(χ2=5.872,P=0.019),HT(+)组颈痛率24.6%高于仅由震颤引起的颈痛率11.3%(χ2=4.060,P=0.041),HT(+)组56.1%患者以HT作为首发症状,HT发生后4.89年出现斜颈。26.7%CD患者同时存在手部震颤,HT(+)组显著性高于HT(-)组(χ2=16.800,P=0.000),ET组69%的患者存在手颤,显著性高于HT(+)组(χ2=7.651, P=0.005)。HT(-),HT(+)和ET三组患者中,HT(-)组具有家族史阳性率最低(10.2%),与HT (+)组相比有显著性差异(χ2=9.201,P=0.002),而ET组具有震颤的家族史阳性率最高(37.5%)。结论 HT和斜颈是头颈部肌张力障碍的两个重要体征,两者可先后出现,并相互转化,而HT有时是其早期唯一的表现,不易与ET区别,在与手颤和具有震颤或其他运动障碍的家族史的患者中更易发生,支持CD与特发性震颤在发病机制上具有一定的关联。%Objective To compare the clinical characteristics,natural history of patients with cervical dystonia(CD)with head tremor [HT (+)],without head tremor [HT (-)]and essential head tremor(ET).Methods We prospectively evaluated 188 consecutive patients of CD including HT(+)57 patients,HT(-)59 patients and 72 patients of ET with a detailed

  16. 奥氮平所致难治性迟发性肌张力障碍1例%Case report of refractory tardive dystonia induced by olanzapine

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 王相立

    2014-01-01

    Tardive dystonia (TDt), a cluster of extrapyramidal symptoms that are caused by long-term use of antipsychotic medication, is characterized by difficulty in autonomic movements of skeletal (voluntary) muscles and consequent deformations of the body. TDt is rarely seen among patients taking olanzapine, but olanzapine was the precipitating antipsychotic medication in this 22-year old male patient with schizophrenia who developed lip puckering, persistent involuntary torticollis, muscular pain, axial dystonia and unstable gait after taking a standard dose of olanzapine regularly for about one year. His symptoms did not resolve after his olanzapine was stopped. Four months of treatment with clozapine combined with magnesium valproate, vitamin E, tiapride, and lorazepam did not lead to any improvement in the dystonia.%迟发性肌张力障碍是长期使用抗精神病药物所致的一系列锥体外系症状,主要特征包括骨骼肌肉(随意肌)自主运动困难和随后的躯体变形。迟发性肌张力障碍在服用奥氮平患者中罕见,但本文报道中奥氮平正是这名22岁男性精神分裂症患者的促发抗精神病药物,他坚持服用标准剂量的奥氮平大约1年后出现撅嘴、持续不自主斜颈、肌肉疼痛、轴向肌张力障碍和步态不稳的症状。停用奥氮平后,他的症状没有缓解。氯氮平合并丙戊酸镁、维生素E、硫必利和劳拉西泮治疗四个月也没有让肌张力障碍得到任何改善。

  17. Distonia laríngea de adução: proposta e avaliação de protocolo de nasofibrolaringoscopia Adduction laryngeal dystonia: proposal and evaluation of nasofibroscopy

    Directory of Open Access Journals (Sweden)

    Noemi Grigoletto De Biase

    2006-08-01

    Full Text Available Distonias são desordens orgânicas do processamento motor central caracterizadas por contrações musculares involuntárias e espasmos à fonação nas formas laríngeas adutoras, com quebras de sonoridade. O diagnóstico é clínico e baseado na avaliação perceptivo-auditiva da voz e nasofibroscopia. OBJETIVO: O nosso objetivo é propor e avaliar um protocolo de exame de nasofibrolaringoscopia que contemple tarefas que evidenciem os espasmos e tarefas que diminuam ou façam desaparecer os espasmos, visando facilitar a análise e o diagnóstico. MATERIAL E MÉTODO: Estudo transversal. Análise de imagens de 15 videonasolaringoscopias de pacientes com distonia laríngea de adução por meio do protocolo proposto. RESULTADOS: A maior parte das tarefas de fala e não-fonatórias permitiram a identificação de espasmos e a diminuição ou desaparecimento destes. Propomos a exclusão de duas delas que não acrescentaram dados à avaliação. CONCLUSÃO: O protocolo foi útil na avaliação dos pacientes, mostrando mudança de comportamento da musculatura nas estruturas estudadas conforme as tarefas executadas.Dystonias are organic central motor processing disorders characterized by involuntary muscular contractions or incontrollable spasms induced by task-specific movements. Adduction laryngeal dystonias present with important speech impairments, with inappropriate spasms and abrupt voice breaks. The diagnosis is based on clinical features, evaluation by a speech therapist and transnasal fiber optic laryngoscopy. AIM: Our objective is to propose and evaluate a task-oriented transnasal fiber optic laryngoscopy protocol, which shows the spasms, and propose maneuvers that reduce or make them disappear, in order to facilitate the diagnosis. METHODS: transversal study. Analysis of the transnasal fiber optic laryngoscopy records of 15 patients with adductor laryngeal dystonia using the proposed protocol. RESULTS: most of the speech and non-vocal tasks

  18. Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis Tratamento de distonia cervical com toxina botulínica em uma paciente com miastenia gravis

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    MARCIA RUBIA R. GONÇALVES

    1999-09-01

    Full Text Available We report the case of a 49-year-old woman who has the rare combination of myasthenia gravis and cervical dystonia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.Relatamos o caso de uma mulher de 49 anos com rara combinação de miastenia gravis e distonia cervical tratada com toxina botulínica tipo A, apresentando boa resposta e nenhuma evidência de piora do quadro miastênico. A partir dessas observações concluimos que é possível o uso de toxina botulínica na presença de doença da transmissão neuromuscular.

  19. A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

    Directory of Open Access Journals (Sweden)

    Rosana H. Scola

    2007-12-01

    Full Text Available Dopa-responsive dystonia (DRD is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1 deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.Distonia dopa-responsiva (DRD, classificada como DYT5, é um erro inato do metabolismo que pode ser causado por dois diferentes tipos de defeito bioquímico: deficiência de GTP ciclo-hidrolase 1 (GCH1 (autossômica dominante ou de tirosina hidroxilase (autossômica recessiva. Descrevemos o caso de menina de 10 anos com distonia generalizada progressiva e alteração da marcha com importante melhora após uso de levodopa. A relação fenilalanina/tirosina estava aumentada após teste de sobrecarga com fenilalanina. O estudo molecular mostrou que o paciente apresenta uma combinação hererozigótica de mutação no gene GCH1: a já conhecida mutação P23L e uma nova mutação Q182E. Discutem-se as características da DRD e as alterações genéticas possíveis.

  20. Determining Whether a Definitive Causal Relationship Exists Between Aripiprazole and Tardive Dyskinesia and/or Dystonia in Patients With Major Depressive Disorder, Part 3: Clinical Trial Data.

    Science.gov (United States)

    Preskorn, Sheldon H; Macaluso, Matthew

    2016-03-01

    This series of columns has 3 main goals: (1) to explain class warnings as used by the United States Food and Drug Administration, (2) to increase awareness of movement disorders that may occur in patients treated with antipsychotic medications, and (3) to understand why clinicians should refrain from immediately assuming a diagnosis of tardive dyskinesia/dystonia (TD) in patients who develop abnormal movements during treatment with antipsychotics. The first column in the series presented a patient who developed abnormal movements while being treated with aripiprazole as an augmentation strategy for major depressive disorder (MDD) and reviewed data concerning the historical background, incidence, prevalence, and risk factors for tardive and spontaneous dyskinesias, the clinical presentations of which closely resemble each other. The second column in the series reviewed the unique mechanism of action of aripiprazole and preclinical studies and an early-phase human translational study that suggest a low, if not absent, risk of TD with aripiprazole. This column reviews clinical trial data to assess whether those data support the conclusion that aripiprazole has a low to absent risk of causing TD when used as an augmentation strategy to treat MDD. To date, no randomized, placebo-controlled trials have established a definitive link between exposure to aripiprazole and TD in patients with MDD. One long-term, open-label, safety trial examined aripiprazole as an augmentation strategy in individuals with MDD and found a rare occurrence (4/987, 0.4%, the confidence interval of which overlaps with zero) of an adverse event termed TD. In all 4 cases, the observed movements resolved within weeks of aripiprazole discontinuation, suggesting that they were either amenable to treatment or represented an acute syndrome rather than TD. No cases of TD were reported in the registration trials for the MDD indication for aripiprazole. These data were presented in a pooled analysis of

  1. Distonia virtual por infarto talâmico posterolateral ventral: relato de caso Virtual dystonia due to a posteroventrolateral thalamic infarct: case report

    Directory of Open Access Journals (Sweden)

    Ricardo De Oliveira-Souza

    1996-09-01

    dystonia not outwardly expressed through the motor system. There was severe proprioceptive loss in the same toes that harbored the cramp. MRI showed the appropriate lesion in the posteroventrolateral thalamus (VPL and wallerian degeneration of thalamo-cortical projections. SPECT showed hypoperfusion of the overlying ipsilateral parietal cortex as well as of the basal nuclei bilaterally, besides the expected image of thalamic exclusion. We hypothesize that the infarct disconnected the somatic sensory cortex (S-I from critical proprioceptive input with relative sparing of superficial sensibility. Lifting the foot deprived S-I of tonic inputs conveyed by undamaged contact-pressure pathways, a functional effect promptly reversed by placing the foot back against the ground. The case illustrates how a capricious deafferentation of S-I by a discrete VPL thalamic infarct might facilitate the emergence of autochthonous activity in the primary somesthetic cortex and give rise to a purely mental abnormal involuntary movement akin to the unimodal hallucinoses of which the syndrome of Bonnet is the best-known example. Virtual abnormal involuntary movements may be concealed more often than appreciated by complaints such as pains or cramps in patients with nervous system lesions.

  2. Head tremor in patients with cervical dystonia: different outcome? Tremor cefálico em pacientes com distonia cervical: evolução diferente?

    Directory of Open Access Journals (Sweden)

    Clecio Godeiro-Junior

    2008-12-01

    Full Text Available OBJECTIVE: The association of cervical dystonia (CD with other movement disorders have been already described, but data on clinical outcome regarding these patients are scant. The aim of this paper was to investigate whether patients with CD and head tremor (HT would have a different outcome regarding to botulinum toxin type-A (BTX-A treatment response and clinical and demographic parameters. METHOD: We retrospectively evaluated 118 medical charts of patients with CD and divided them into two groups: with (HT+ and without (HT- head tremor. We compared the following clinical and demographic parameters: age at onset, disease duration, progression of symptoms, etiology, familial history, presence of hand tremor. We also analyzed the response to BTX-A according to Tsui score in both groups. RESULTS: The occurrence of head tremor in our sample was of 38.2%. The occurrence of postural hand tremor in the patients from the HT+ group was higher than in the HT- one (p=0.015 and if we compare BTX-A response in each group, we observe that patients with HT present a better outcome in a setting of longer follow-up. In HT+ group, Tsui score pre treatment was 10 (6-12.5 and after follow-up was 8 (5.5-10.5; pOBJETIVO: A associação de distonia cervical (DC com outros transtornos do movimento já foi descrita, mas há poucos dados quanto à evolução clínica destes pacientes. Avaliamos se os pacientes com DC e tremor cefálico (TC apresentam características clínicas e demográficas, assim como a resposta ao tratamento com toxina botulínica tipo A, diferentes. MÉTODOS: Analisamos retrospectivamente 118 prontuários de pacientes com DC e os dividimos em dois grupos: com (TC+ e sem (TC- tremor cefálico. Comparamos os seguintes parâmetros clínicos e demográficos entre os grupos: idade de início, duração da doença, progressão de sintomas, etiologia, história familiar, presença de tremor em mãos. Também analisamos a resposta ao tratamento com toxina

  3. Comparison of clinical characteristics of patients with adductor laryngeal dystonia in the focal and segmental types Comparação entre características clínicas de pacientes com distonia laríngea de adução nas formas focal e segmentar

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    Gustavo Polacow Korn

    2011-08-01

    Full Text Available Dystonia is a central motor processing neurological disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms. AIM: To compare patients with the diagnoses of focal and segmental adductor laryngeal dystonia at the Neurolarynx Outpatient Clinic of the Federal University of São Paulo. MATERIALS AND METHODS: A clinical retrospective study of data collected from patient registries from 2003 to 2009. RESULTS: Of 34 patients, 25 presented focal dystonia and 9 presented segmental dystonia. There were 30 females (88. 2% and 4 males (11. 8%. A relation with a traumatic event was reported in 11 cases (32. 4%. Vocal tremor was observed in 21 patients (61. 8%. The mean age at onset, the age at diagnosis, and time between the onset and the diagnosis were respectively 55, 61. 3 and 6. 3 years. There was no statistical difference between patients with focal laryngeal adductor dystonia and segmental dystonia in the study data. CONCLUSIONS: There were no statistical differences among patients with focal adductor laryngeal dystonia and segmental dystonia relating to age of onset, age of diagnosis, gender, time between onset and diagnosis, presence of associated tremor, and relation to traumaA distonia é um transtorno neurológico do processamento motor central caracterizado por movimentos involuntários ou espasmos incontroláveis, induzidos por atividade. OBJETIVO: Comparar pacientes com o diagnóstico de distonia laríngea nas formas focal e distonia segmentar do Ambulatório de Neurolaringe. MATERIAL E MÉTODO: Estudo clínico retrospectivo a partir de levantamento dos prontuários entre 2003 e 2009. RESULTADOS: Dos 34 pacientes, 25 apresentaram distonia focal e 9 apresentaram distonia segmentar. Do total da amostra, 30 (88,2% eram do sexo feminino e 4 (11,8% do sexo masculino. A relação com situação traumática estava presente em 11 (32,4%. O tremor associado esteve presente em 21 pacientes (61,8%. A média da

  4. Avaliação do filme lacrimal de pacientes com distonia facial durante tratamento com toxina botulínica tipo A Lacrimal film evaluation of patients with facial dystonia during botulinum toxin type A treatment

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    Patricia Grativol Costa

    2006-06-01

    Full Text Available OBJETIVO: Determinar o efeito da toxina botulínica no filme lacrimal em pacientes com distonia facial. MÉTODOS: Foram incluídos 24 pacientes portadores de blefaroespasmo essencial e espasmo hemifacial que receberam aplicação de toxina botulínica tipo A que foram submetidos à propedêutica do filme lacrimal previamente à aplicação e após, com 7 e 30 dias. RESULTADOS: Houve diminuição das queixas de olho seco trinta dias após a aplicação, entretanto, o tempo de ruptura do filme lacrimal e o teste de Schirmer não demonstraram variação significativa entre os períodos pré-tratamento e 1 mês da aplicação. Em relação ao teste de coloração com rosa bengala, todos os olhos que coraram no pré-tratamento, melhoraram na última avaliação. CONCLUSÃO: A injeção de toxina botulínica pode aliviar as queixas de olho seco nos pacientes com distonia facial pela provável ação de inibição do orbicular na sua função de bomba lacrimal.PURPOSE: To determine the effect of botulinum toxin injection in the eyelid on lacrimal film in patients with facial dystonia. METHODS: Twenty-four patients with essential blepharospasm and hemifacial spasm were submitted to botulinum toxin injection and lacrimal film tests were performed before the application and after seven and thirty days. RESULTS: There was improvement in symptoms of dry eye and rose bengal test, however, the breakup time and Schirmer's test did not show significant variation between pretreatment and after 1 month of follow-up. CONCLUSION: The dry eye symptoms in patients with facial dystonia may be attenuated by botulinum toxin due to its possible inhibitory effect on the orbicular muscle leading to a decrease in lacrimal pump.

  5. The Regions on the Light Chain of Botulinum Neurotoxin Type A Recognized by T Cells from Toxin-Treated Cervical Dystonia Patients. The Complete Human T-Cell Recognition Map of the Toxin Molecule.

    Science.gov (United States)

    Oshima, Minako; Deitiker, Philip; Jankovic, Joseph; Atassi, M Zouhair

    2017-09-11

    We have recently mapped the in vitro proliferative responses of T cells from botulinum neurotoxin type A (BoNT/A)-treated cervical dystonia (CD) patients with overlapping peptides encompassing BoNT/A heavy chain (residues 449-1296). In the present study, we determined the recognition profiles, by peripheral blood lymphocytes (PBL) from the same set of patients, of BoNT/A light (L) chain (residues 1-453) by using 32 synthetic overlapping peptides that encompassed the entire L chain. Profiles of the T-cell responses (expressed in stimulation index, SI; Z score based on transformed SI) to the peptides varied among the patients. Samples from 14 patients treated solely with BoNT/A recognized 3-13 (average 7.2) peptides/sample at Z > 3.0 level. Two peptide regions representing residues 113-131 and 225-243 were recognized by around 40% of these patients. Regarding treatment parameters, treatment history with current BOTOX(®) only group produced significantly lower average T-cell responses to the 32 L-chain peptides compared to treatments with mix of type A including original and current BOTOX(®). Influence of other treatment parameters on T-cell recognition of the L-chain peptides was also observed. Results of the submolecular T-cell recognition of the L chain are compared to those of the H chain and the T-cell recognition profile of the entire BoNT/A molecule is discussed. Abbreviations used: BoNT/A, botulinum neurotoxin type A; BoNT/Ai, inactivated BoNT/A; BoNT/B, botulinum neurotoxin type B; CD, cervical dystonia; L chain, the light chain (residues 1-448) of BoNT/A; LNC, lymph node cells; H chain, the heavy chain (residues 449-1296) of BoNT/A; HC, C-terminal domain (residues 855-1296) of H chain; HN, N-terminal domain (residues 449-859) of H chain; MPA, mouse protection assay; SI, stimulation index (SI = cpm of (3)H-thymidine incorporated by antigen-stimulated T cells/cpm incorporated by unstimulated cells); TeNT, tetanus neurotoxin; TeNTi, inactivated TeNT.

  6. Toxina botulínica no blefaroespasmo, no espasmo hemifacial e na distonia cervical: resultados em 33 pacientes Botulinum toxin in blepharospasm, hemifacial spasm and cervical dystonia: results in 33 patients

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    Sérgio Ap. Novis

    1995-09-01

    Full Text Available Avaliamos os resultados terapêuticos obtidos com o emprego de toxina botulínica do tipo A em 33 pacientes com distonia (12 com blefaroespamo; 10 com espasmo hemifacial e 11 com torcicolo espasmódico. Utilizamos uma escala de pontuação de gravidade antes de cada aplicação, sendo reavaliados duas semanas após, seguindo a mesma escala. Entre os com blefaroespasmo, oito eram mulheres e quatro homens; a média de idade foi 57,7 anos; a média do tempo de doença de quatro anos; três tinham história similar na família; nove eram essenciais e três fizeram uso de neurolépticos (distonia tardia. A dose média empregada ficou em 51,3 U, com a duração média do efeito benéfico de 2,8 meses. Do total de 22 aplicações (injeções e reinjeções, 14 (63,7% tiveram resultado ótimo, 5 (22,7% bom e três (13,6% nulo. Naqueles com espasmo hemifacial, oito eram mulheres e dois homens; a média de idade foi 52,6 anos; a média do tempo de doença 7,4 anos; oito eram essenciais e dois pós-páralíticos. A dose média empregada ficou em 32 U. Do total de 15 aplicações, todos (100% tiveram resultado ótimo, com a duração média do efeito benéfico de 3,4 meses. Nos pacientes com distonia cervical, oito eram homens e três mulheres; a média de idade foi 44,2 anos; a média do tempo de doença 12,2 anos; seis eram essenciais, três fizeram uso de neuroléptico e dois tinham história familiar. A dose média empregada ficou em 238,6 U, com a duração média do efeito benéfico de 4,7 meses. Do total de 20 aplicações, 18 (90% tiveram resultado bom, 1 (5% regular e 1 (5% nulo. Ptose palpebral, paresia facial e disfagia foram os efeitos colaterais mais encontrados. Concluímos que a toxina botulínica revelou-se eficaz no tratamento destas condições.The effects of botulinum toxin type A were studied in 33 patients with dystonia (12 blepharospasms, 10 hemifacial spasms and 11 spasmodic torticollis. A rate scale was used to evaluate the severity

  7. 多巴反应性肌张力障碍的临床特点和基因诊断%Clinical characteristics and genetic diagnosis of dopa-rcsponsive dystonia

    Institute of Scientific and Technical Information of China (English)

    陈蕾; 张本恕; 孙峰; 赵鹏; 肖颖

    2008-01-01

    Objective To investigate the clinical characteristics and mutations of guanosine triphosphate eyclohydrolase (GCH) Ⅰ gene in patients with dopa-responsive dystonia (DRD). Methods Five families with 18 affected family members and 17 patients with sporadic DRD were examined. Patients were allocated into 3 groups according to onset time, either in childhood, or in adolescence or adult. Interview, physical examination, psychologic testings and CT/MR scan were performed. Mutation screening was performed on 26 patients and 1 normal family nember. Thirty-five healthy control subjects were matched for age and sex. Statistical analysis were conducted with the use of SPSS 13.0 computer software. Results(1)Most of patients started with dystonia. The main clinical manifestation was dystonia too. There was no difference among 3 groups.(2) There were significant differences in diurnal fluctuation among 3 groups(15/15,6/6,7/14, χ2=13.125,P=0.001). Diurnal fluctuation negatively correlated with age (r=-0.720, P<0.01).(3)The differences in postural tremor were also found among 3 groups (7/15,5/6,1/14, χ2=8.073, P=0.018). Postural tremor positively correlated with age (r=0.399, P=0.018).(4)There were differences in exaggeration of tendon among three groups(11/15,1/6,4/14, χ2=8.309, P=0.016). Exaggeration of tendon reflexes negatively correlated with age (r=-0.429, P=0.010).(5)The scores of Hamilton Depression Scale and Hamilton Anxiety Scale in patients were higher than those in controls.(6)DNA sequencing revealed a heterozygous A224G missense mutation(Tyr75Cys)located within exon 1 in one autosomal dominant inheritance family. Conclusions The manifestations of DRD varies. The clinical course is closely correlated with age. A missense mutation(A224G)in coding region of the GCH 1 gene probablyleads to the occurrence of DRD.%目的 研究多巴反应性肌张力障碍(DRD)患者的临床特点和三磷酸鸟苷环化水解酶Ⅰ(GCH Ⅰ)基因突变.方法 对18例家族性和17

  8. Determining Whether a Definitive Causal Relationship Exists Between Aripiprazole and Tardive Dyskinesia and/or Dystonia in Patients With Major Depressive Disorder, Part 2: Preclinical and Early Phase Human Proof of Concept Studies.

    Science.gov (United States)

    Macaluso, Matthew; Flynn, Alexandra; Preskorn, Sheldon

    2016-01-01

    This series of columns has 3 main goals: (1) to explain class warnings as used by the United States Food and Drug Administration, (2) to increase awareness of movement disorders that may occur in patients treated with antipsychotic medications, and (3) to understand why clinicians should refrain from immediately assuming a diagnosis of tardive dyskinesia/dystonia (TD) in patients treated with antipsychotics. The first column in this series began with the case of a 76-year-old man with major depressive disorder who developed orofacial dyskinesias while being treated with aripiprazole as an antidepressant augmentation strategy. It was alleged that a higher than intended dose of aripiprazole (ie, 20 mg/d for 2 wk followed by 10 mg/d for 4 wk instead of the intended dose of 2 mg/d) was the cause of the dyskinetic movements in this man, and the authors were asked to review the case and give their opinion. The principal basis for this theory of causation was the class warning about TD in the package insert for aripiprazole. The rationale for concluding aripiprazole caused TD in the 76-year-old man led to this series of columns about aripiprazole, its potential--if any--to cause TD, and the presence of a class warning about TD in its package insert. The central point is to illustrate why class warnings exist and their implications for practice. The first column in this series focused on the historical background, incidence, prevalence, risk factors, and clinical presentations of tardive and spontaneous dyskinesias and concluded with a discussion of diagnostic considerations explaining why clinicians should avoid making a diagnosis of TD until a thorough differential diagnosis has been considered. This second column in the series reviews the pharmacology of aripiprazole and the preclinical and phase I translational human studies that suggest aripiprazole should have a low to nonexistent risk of causing TD compared with other antipsychotics. The third column in the series

  9. Toxina botunílica tipo B no manejo de distonia não-responsiva a toxina botunílica tipo A Botulinum toxin type B in the management of dystonia non-responsive to botulinum toxin type A

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    Francisco Cardoso

    2003-09-01

    sessões de 17,4 semanas (variação 16-18. Ela se tornou não-respondedora após a nona sessão. Primeiro tratamento com BTX-B, 6000U, recebeu escore 0. A segunda sessão, 12000U, produziu escore 4.Paciente 4- Com a idade de 69 anos este homem desenvolveu distonia cranial idiopática. Antes de ser atendido por mim, ele recebeu 6 sessões de BTX-A em outros serviços. Na minha instituição ele foi tratado com dose acumulada de 730U em 4 sessões com intervalo médio entre sessões de 16,3 semanas (variação 15-18, havendo perdido a resposta na sexta sessão. Tratamento com BTX-B, 12000U, produziu escore 4 e durou 20 semanas. Efeitos colaterais: dor local (todos os pacientes e ressecamento da boca e ptose palpebral (um paciente cada. CONCLUSÃO: Meus achados confirmam que injeções de BTX-B são eficazes e seguras para pacientes não-respondedores secundários a BTX-A. Os resultados também mostram ser necessário individualizar a dose de BTX-B para se alcançar melhores resultados.BACKGROUND: Botulinum toxin (BTX injection is the first choice treatment for focal dystonias. However 10% or more of patients who receive repetitive injections of BTX type A (BTX-A lose response (secondary non-responders. One of the strategies to manage such patients is to treat them with another serotype. The aim of this article is to describe my experience with BTX type B (BTX-B in the management of patients with focal dystonia who became secondary non-responders to BTX-A. METHOD: Open-label non-controlled use of BTX-B injections to treat dystonia patients who developed secondary nonresponse to BTX-A Response to treatment was rated on a 0-4 scale (Jankovic. RESULTS: Four patients entered the study. Pacient 1- At age 48 this man developed idiopathic cervical dystonia. Five years later he also presented with blepharospasm and idiopathic oromandibular dystonia. He was treated with 7604U of BTX-A along 23 sessions separated by a mean interval of 18.8 weeks (range 6-39. Loss of response was

  10. Eficácia do resfriamento da pele no alívio da dor desencadeada pela injeção de toxina botulínica tipo A nas distonias faciais Skin cooling efficacy on pain relief in periocular injections with botulinum toxin A in facial dystonias

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    Paula Barros Bandeira de Mello Monteiro

    2012-12-01

    Full Text Available OBJETIVO: Avaliar a eficácia do resfriamento da pele com gelo no alívio da dor desencadeada pela injeção de toxina botulínica tipo A na região periocular em pacientes portadores de distonia facial. MÉTODOS: Neste estudo prospectivo, 13 pacientes receberam injeção de toxina botulínica tipo A em região glabelar (m. prócero e periocular (m. orbicular para tratamento de distonia facial. Antes das aplicações, um lado da região glabelar foi resfriado com gelo durante 5 minutos, enquanto no outro lado foi aplicada pomada Epitezan®, funcionando como placebo. A aplicação foi feita primeiramente no lado resfriado. Após a aplicação em cada um dos lados os pacientes foram instruídos a dar uma nota para a dor desencadeada pela injeção, em uma escala de 0 a 10 onde 0 era ausência de dor e 10 a dor mais intensa. RESULTADOS: A média das notas dadas pelos pacientes à dor desencadeada pela injeção no lado onde foi aplicado placebo foi 3,92 ± 3,28. No local onde foi aplicado gelo a média das notas foi de 2,92 ± 2,18 (p PURPOSE: To evaluate the efficacy of skin cooling with ice on pain relief in periocular injection with botulinum toxin type A in patients with facial dystonias. METHODS: In this prospective study, 13 patients received botulinum toxin type A injection in glabela (procerus m. and periocular region (orbicular m. for facial dystonias treatment. Before the injections, one side of the glabela was submitted to a 5-minute cooling period, while the opposite side had Epitezan® cream applied, as a placebo. The application was done at the cooled side first. After the application on each side the patients were instructed to rate the pain associated with the injection on a scale from 0 to 10, with 0 indicating no pain and 10 the worst pain. RESULTS: The average pain score on the side where cold was applied was 3,92 ± 3,28, while on the control side the average pain score was 2,92 ± 2,18 (p < 0,0166. CONCLUSION: In this study

  11. O uso da toxina botulínica no tratamento da distonia laríngea (disfonia espasmódica: estudo preliminar com doze pacientes Use of botulinum toxin in the treatment of laryngeal dystonia (spasmodic dysphonia: preliminary study of twelve patients

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    Hélio A. G. Teive

    2001-03-01

    Full Text Available A distonia laríngea (disfonia espasmódica é distúrbio do movimento caracterizado por contrações involuntárias da musculatura laríngea envolvida no processo de vocalização. A utilização da toxina botulínica no tratamento da distonia laríngea trouxe consideráveis benefícios clínicos. Descrevemos os resultados preliminares do uso terapêutico da toxina botulínica no tratamento da distonia laríngea em 12 pacientes. Após investigação clínica, os pacientes foram submetidos a videolaringoestroboscopia para confirmação diagnóstica e as injeções de toxina botulínica foram realizadas através de punção da membrana cricotireóidea em direção ao músculo tireoaritenóideo, com uso de eletromiografia. A maioria dos pacientes submetidos ao tratamento com toxina botulínica apresentou melhora significativa da distonia laríngea (83% dos casos, com duração média do efeito de quatro meses, sem efeitos colaterais significativos.Laryngeal dystonia (spasmodic dysphonia is a movement disorder characterized by involuntary contractions of laryngeal muscles involved with vocalization. The introduction of botulinum toxin in the treatment of laryngeal dystonia had a major clinical impact due to the striking improvement of symptoms. We report the preliminary results of therapeutical use of botulinum toxin in the treatment of twelve patients with laryngeal dystonia. After an extensive clinical evaluation, the patients underwent a videostroboscopic exam for diagnostic confirmation. Botulinum toxin was injected in the cricothyreoid membrane, directed towards the thyreoaritenoid muscle, with the aid of eletromyography needles. Most of patients who underwent botulinum toxin injection had a significant improvement of their symptoms (83%, with effects lasting for four months in average and without important side effects.

  12. Avaliação da fenda palpebral após aplicação de toxina botulínica tipo A em pacientes com distonias faciais Evaluation of palpebral fissure after botulinum toxin type A injection in patients with facial dystonias

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    Mariana Eleonora Pereira Cunial

    2012-12-01

    Full Text Available OBJETIVO: Avaliar a medida da fenda palpebral em pacientes com blefaroespasmo essencial benigno (BEB e espasmo hemifacial (EHF após a aplicação periocular de toxina botulínica tipo A. MÉTODOS: Foram estudados pacientes portadores de BEB e EHF submetidos à injeção periocular de toxina botulínica tipo A pela técnica inner orbital de aplicação. Os pacientes foram fotografados em PPO antes da aplicação e catorze dias depois dela. A fenda palpebral foi mensurada nestas imagens por meio de processamento computadorizado de imagens, utilizando o programa ImageJ. As alterações da fenda palpebral foram observadas comparando-se as medidas obtidas no pré e pós-aplicação. RESULTADOS: Comparando-se as imagens obtidas com o programa ImageJ, houve aumento estatisticamente significante (pPURPOSE: To evaluate the measurement of palpebral fissure in patients with facial dystonias before and after periocular injection with botulinum toxin type A. METHODS: We studied patients with benign essential blepharospasm and hemifacial spasm underwent periocular injection of botulinum toxin type A by the inner orbital technique of application. Patients were photographed 14 days before and after application. The palpebral fissure was measured in these images by means of computerized image processing using the program ImageJ. The palpebral fissure changes were observed by comparing the measurements obtained before and after application. RESULTS: Comparing the images obtained with the program ImageJ, there was a statistically significant increase (p <0.001 of the palpebral fissure in 14 eyes (51,8% after the application of periocular injection of botulinum toxin and the images analyzed showed no decrease of the palpebral fissure. CONCLUSION: In this study, patients with facial dystonias showed increased palpebral fissure periocular statistically significant after application of botulinum toxin type A.

  13. Relief of primary cervical dystonia symptoms by low frequency transcranial magnetic stimulation of the premotor cortex: case report Alívio da distonia cervical primária com o uso da estimulação magnética transcraniana de baixa freqüência sobre o córtex pré-motor: relato de caso

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    Nasser Allam

    2007-09-01

    Full Text Available OBJECTIVE: To evaluate the effect of low-frequency repetitive transcranial magnetic stimulation (rTMS on the symptoms of a patient with primary segmental dystonia (PSD. METHOD: 1200 TMS pulses at a frequency of 1Hz, over the premotor cortex, with an intensity of 90% of the motor threshold (MT, using an eight-shaped coil; a total of 5 sessions were carried out. RESULTS: A reduction of 50 percent in the neck subset of the Burke, Fahn and Marsden torsion dystonia scale (BFM was observed in our patient. CONCLUSION: The reduction in the BFM scale supports the concept that rTMS of the premotor cortex may reduce specific motor symptoms in PSD.OBJETIVO: Investigar o efeito da estimulação magnética transcraniana repetitiva (EMTr de baixa freqüência nos sintomas de um paciente com distonia segmentar primária (DSP. MÉTODO: 1200 pulsos a uma freqüência de 1Hz, sobre o córtex pré-motor, a uma intensidade de 90% do limiar motor (LM, usando uma bobina em forma de 8. Foram realizadas 5 sessões. RESULTADOS: Uma redução de 50% no sub-item "pescoço" na escala de distonia de torção de Burke, Fahn e Marsden (BFM foi observada no paciente em questão. CONCLUSÃO: A redução na escala BFM corrobora a idéia de que a EMTr sobre o córtex pré-motor pode reduzir sintomas motores específicos na DSP.

  14. Genetics Home Reference: dopa-responsive dystonia

    Science.gov (United States)

    ... neurotransmitters called dopamine and serotonin. Among their many functions, dopamine transmits signals within the brain to produce smooth ... to a decrease in the amount of available dopamine. TH gene mutations ... with reduced function, which leads to a decrease in dopamine production. ...

  15. Action Dystonia in Lesch-Nyhan Disease

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    J Gordon Millichap

    2006-06-01

    Full Text Available The motor disorder associated with Lesch-Nyhan disease (LND was studied in a total of 44 patients (ages 2 to 38 years seen at Johns Hopkins Hospital, Baltimore, MD, and other US and international centers.

  16. Temporal Expectation in Focal Hand Dystonia

    Science.gov (United States)

    Avanzino, Laura; Martino, Davide; Martino, Isadora; Pelosin, Elisa; Vicario, Carmelo M.; Bove, Marco; Defazio, Gianni; Abbruzzese, Giovanni

    2013-01-01

    Patients with writer's cramp present sensory and representational abnormalities relevant to motor control, such as impairment in the temporal discrimination between tactile stimuli and in pure motor imagery tasks, like the mental rotation of corporeal and inanimate objects. However, only limited information is available on the ability of patients…

  17. Aspectos clínicos e terapêuticos em 135 pacientes com distonia: experiência do Setor de Distúrbios do Movimento do Hospital de Clínicas da Universidade Federal do Paraná Clinical and therapeutical features in 135 patients with dystonia: experience of movement disorders unity of the Hospital de Clínicas da Universidade Federal do Paraná

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    GIORGIO FABIANI

    1999-09-01

    Full Text Available Este estudo visa descrever aspectos clínicos e respostas terapêuticas de 135 pacientes com distonia. Quanto à classificação, 54% apresentava distonia focal, 17,8% segmentar, 8,1% hemidistonia, 1,5% multifocal e 18,6% generalizada. Vinte e seis por cento apresentavam distonia secundária; e 5,9% tinham história familiar. O tratamento das distonias idiopáticas divide-se em específico e sintomático, podendo ser local, com toxina botulínica; ou sistêmico, com drogas orais. As drogas utilizadas foram anticolinérgicos e benzodiazepínicos, com resposta pobre em formas generalizadas. A toxina botulínica foi utilizada em 54 pacientes com distonia focal ou segmentar. Na distonia cervical o início do efeito (IE ocorreu em oito dias; obtendo-se efeito máximo (EM em 25,2 dias, e duração média do efeito (DME de 76,8 dias. Na síndrome de Meige e blefaroespasmo obtivemos resultados encorajadores: IE=4,5dias; EM=17,6dias; DME=87,6dias. Conclui-se que a toxina botulínica A é a primeira escolha para distonias focais e segmentares, enquanto formas generalizadas apresentam resposta pobre às drogas utilizadas.This study aims to describe the clinical patterns and therapeutic responses in 135 patients with dystonia. According to the classification, 54% were focal; 17.8% were segmental; 8.1% hemidistonia; 18.6% generalized and 1.5% were multifocal. There was a positive familial history in 5.9% of the cases. The treatment of the idiopathic dystonias is divided in: specific and symptomatic, and it can be local with botulinum toxin, or systemic with oral drugs. The most common drugs used in the treatment were anticholinergics and benzodiazepines, with poor responses in the generalized forms. Botulinum toxin A was the first line treatment for focal and segmental forms of dystonia. Meanwhile, the generalized forms of dystonia show poor response to the therapies utilized.

  18. Toxina botulínica no tratamento de distonias faciais: avaliação da eficácia e da satisfação dos pacientes ao longo do tratamento Botulinum toxin in the treatment of facial dystonia: evaluation of its efficacy and patients' satisfaction along the treatment

    Directory of Open Access Journals (Sweden)

    Patrícia Gravito Costa

    2005-08-01

    Full Text Available OBJETIVO: Estudar a eficácia do tratamento com toxina botulínica nos pacientes com distonia facial e a satisfação com o tratamento ao longo do tempo. MÉTODOS: Estudo retrospectivo de 42 pacientes portadores de distonia facial acompanhados no setor de Plástica Ocular da Clínica Oftalmológica do Hospital das Clínicas da Universidade de São Paulo. RESULTADOS: Após as primeiras aplicações, 45,2% dos pacientes deram notas entre 9-10 para melhora do espasmo, 35,7% deram notas entre 7-8, 16,7% deram notas entre 5-6 e apenas um paciente deu nota 4. Em relação ao intervalo de reaparecimento do espasmo, 4,8% dos pacientes referiram entre 5-6 meses, 64,2% entre 3-4 meses e 31% entre 1-2 meses. Ao longo do tratamento, 76,1% dos pacientes referiram manter a mesma nota sobre a melhora do espasmo, 19,1% referiram melhora do resultado nas aplicações e apenas 4,8% referiram piora da eficácia nas aplicações atuais. Quanto ao tempo de retorno do espasmo após aplicação, 64,2% relataram não haver mudança ao longo do seguimento no serviço, 16,7% relataram aumento e 19,1% relataram diminuição do intervalo de remissão dos sintomas. Após aplicação, 19% dos pacientes apresentaram efeitos colaterais e 73,8% dos pacientes referiram desconforto apenas leve ou moderado em relação à aplicação. CONCLUSÕES: O uso da toxina botulínica foi eficaz e não houve alteração da eficácia ao longo do tempo. São poucos os efeitos colaterais e boa tolerância à administração. É boa alternativa para melhorar a qualidade de vida desses pacientes evitando a cegueira funcional causada por essas doenças.PURPOSE: To study the efficiency of botulinum toxin treatment in facial dystonia patients and their satisfaction along treatment. METHODS: Retrospective study of 42 facial dystonia cases followed at the Oculoplastic Surgery Department of the "Hospital das Clínicas" of the University of São Paulo. RESULTS: Following the first injections, 45.2% of

  19. Botulinum-A toxin in the treatment of painful post-stroke nocturnal paroxysmal dystonia triggered by periodic limb movements of sleep: case report Toxina botulínica tipo A no tratamento da distonia paroxística noturna dolorosa pós-isquemia cerebral desencadeada por movimentos periódicos do sono: relato de caso

    Directory of Open Access Journals (Sweden)

    Pedro A. Kowacs

    2006-12-01

    Full Text Available INTRODUCTION: Sleep disorders presenting involuntary movements may be very annoying to patients, apart from their negative influence on sleep. OBJECTIVE: To report the use of botulinum type-A toxin (BoNT-A to manage the case of a patient whose sleep was severely disrupted by episodes of dystonic posturing of the right lower limb triggered by periodic limb movements of sleep (PLMS. METHOD: A 79-year-old woman with mild post-stroke right hemiparesis presented with recurrent painful episodes of dystonia of the right lower limb, which disrupted her sleep. The dystonic episodes could also be voluntarily triggered by extension of the right hallux. Polysomnography confirmed that the dystonic episodes were triggered by PLMS. Twenty units of BoNT-A (20U/500U vial were injected into her right extensor hallucis longus. RESULTS: Shortly after BoNT-A was injected, the dystonic symptoms abated, and the patient achieved better sleep efficiency. CONCLUSION: The PLMS-related involuntary extension of the hallux was probably triggering the nocturnal post-stroke lower limb dystonic paroxysms. BoNT-A injection into the right extensor hallucis longus was effective in managing this condition and thus resolved the associated disruption of sleep.INTRODUÇÃO: Desordens do sono apresentando movimentos involuntários podem ser bastante perturbadoras aos pacientes, além de sua influência negativa no sono. OBJETIVO: Descrever o uso da toxina botulínica tipo-A (BoNT-A no manejo do caso de um paciente cujo sono estava gravemente fragmentado por episódios de distonia do membro inferior direito, desencadeados por movimentos periódicos do sono (MPS. MÉTODO: Uma paciente com 79 anos portadora de hemiparesia direita leve seqüelar a isquemia cerebral (AVCI procurou-nos por episódios dolorosos recorrentes de distonia noturna de seu membro inferior direito, os quais fragmentavam seu sono. Os episódios de distonia também podiam ser desencadeados voluntariamente, por extens

  20. [Functional cramps or functional dystonias in writers and musicians].

    Science.gov (United States)

    Chamagne, P

    1986-01-01

    The clinical evaluation in the "dystonies of function" or "impaired dexterity" reveals certain physical anomalies which either appear spontaneously or are triggered by specific tests: abnormal postures involving the trunck, head, and upper limb. During the professional gesture the physiological "pulley effect" on flexor tendons is accompanied with an interference effect produced by the displacement of the segments; this, adds up to an unbalance of the digital kinetic chain, building a locked functional system. The antagonist muscles begin to supply the deficiency of the agonist muscles. In addition, patients with a characteristic psychological ground suffer a more acute "disorganization" or a performing career.

  1. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2016-10-01

    Gene Therapy for Hemophilia What other organizations were involved as partners? Nothing to Report. 8. SPECIAL REPORTING REQUIREMENTS. None 9. APPENDICES. None. 17 ...Dr. Davidson has the following changes to report: New Grants PICALM Gene Therapy Zlokovic (PI) 10/1/15-9/30/16 .48 cal months Cure...Davidson (PI) 07/01/12-06/30/16 .24 cal/months Advancing gene therapy for late infantile neuronal ceroid lipofuscinosis R21

  2. Hemichorea and dystonia due to frontal lobe meningioma

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2014-01-01

    Full Text Available Tumors originating from the meninges, also known as meningiomas, have rarely been known to cause parkinsonian symptoms and other movement disorders. Although some cases of AV malformations causing movement disorders have been described in the literature, not much has been reported about meningiomas in this regard. The aim of this case report is to further highlight the importance of brain imaging in patients with movement disorders for even a benign tumor; and also emphasize the need for a careful movement disorder examination because more than one phenomenology of movement disorders may result from the mechanical pressure caused by a tumor. We present a case report of a patient with a heavily calcified right frontal lobe meningioma. Our patient had irregular, involuntary, brief, fleeting and unpredictable movements of her left upper and lower extremities, consistent with chorea. The patient also had abnormal dystonic posturing of her left arm while walking. This case report highlights the importance of brain imaging as well as careful neurological examinations of patients with benign meningiomas. Moreover, it illustrates the remarkable specificity yet clinical diversity of meningiomas in presentation through movement disorders.

  3. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

    Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.

  4. Paraneoplastic degeneration of the substantia nigra with dystonia and parkinsonism.

    Science.gov (United States)

    Golbe, L I; Miller, D C; Duvoisin, R C

    1989-01-01

    A 42-year-old woman suffered unexplained weight loss followed by action tremor and difficulty initiating gait. Three months after onset of symptoms, infiltrating ductal carcinoma of the breast, metastatic to liver and lymph nodes, was diagnosed and treated briefly with cyclophosphamide, methotrexate, and 5-flourouracil (5FU). Severe symmetric action and postural tremor with a myoclonic component developed, with minimal rest tremor, severe dysarthria and dysphagia, small-stepped and slightly ataxic gait progressing to a bedbound state, and severe widespread dystonic posturing. The latter began as a typical parkinsonian posture of trunk and upper extremities and progressed to a fixed and painful flexion of the elbows and wrists and extension of fingers and neck. Sinemet, anticholinergics, baclofen, diazepam, and plasmapheresis gave no benefit. The patient died of complications of immobility 5 months after neurologic symptom onset. Autopsy revealed many pigment-laden macrophages in substantia nigra and moderate loss of pigmented neurons. Inflammation, Lewy bodies, and tumor were absent. Cerebellar Purkinje cells were moderately depleted. Mild neuronal loss and gliosis were present in globus pallidus and cerebellar cortex. Stains for anti-human IgG, IgM, kappa, and lambda were negative. This, to our knowledge, is the first report of paraneoplastic degeneration of substantia nigra or paraneoplastic parkinsonism.

  5. Genetics Home Reference: early-onset primary dystonia

    Science.gov (United States)

    ... its function, this protein may help process and transport other proteins within cells. It appears to be critical for ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  6. Respiratory Dynamics and Speech Intelligibility in Speakers with Generalized Dystonia.

    Science.gov (United States)

    LaBlance, Gary R.; Rutherford, David R.

    1991-01-01

    This study compared respiratory function during quiet breathing and monologue, in six adult dystonic subjects and a control group of four neurologically intact adults. Dystonic subjects showed a faster breathing rate, less rhythmic breathing pattern, decreased lung volume, and apnea-like periods. Decreased speech intelligibility was related to…

  7. Genetics Home Reference: dopamine transporter deficiency syndrome

    Science.gov (United States)

    ... dystonia infantile Merck Manual Consumer Version: Dystonia Merck Manual Consumer Version: Parkinsonism Patient Support and Advocacy Resources (3 links) Dystonia Medical Research Foundation National Organization for Rare Disorders: Dystonia The Bachmann-Strauss Dystonia & ...

  8. Pathomechanisms of Dopamine Dysregulation in DYT1 Dystonia: Targets for Therapeutics

    Science.gov (United States)

    2016-10-01

    In our initial experiments, we examined the expression of Figure 1. TH, DAT and VMAT2 protein expression, as assessed by western blot analysis in...VMAT2 and other markers of presynaptic dopamine terminals including the dopamine transporter (DAT) and tyrosine hydroxylase (TH) by western blot

  9. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

    NARCIS (Netherlands)

    Meyer, Esther; Carss, Keren J.; Rankin, Julia; Nichols, John M. E.; Grozeva, Detelina; Joseph, Agnel P.; Mencacci, Niccolo E.; Papandreou, Apostolos; Ng, Joanne; Barra, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A.; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A.; Israe, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; Mckee, Shane; Misra, Shibalik; Mohammed, Shekeeb S.; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J.; Peters, Gregory B.; Prabhakar, Prab; Reuter, Miriam S.; Rump, Patrick; Sege, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M.; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T.; Winter, Gidon; Wragg, Christopher; Pope, Simon; Heales, Simon J. H.; Morrogh, Deborah; Pittman, Alan; Carr, Lucinda J.; Perez-Duenas, Belen; Lin, Jean-Pierre; Reis, Andre; Gahl, William A.; Toro, Camilo; Bhatia, Kailash P.; Wood, Nicholas W.; Kamsteeg, Erik-Jan; Chong, Wui K.; Gissen, Paul; Topf, Maya; Dale, Russell C.; Chubby, Jonathan R.; Raymond, F. Lucy; Kurian, Manju A.

    Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about

  10. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy

    OpenAIRE

    1998-01-01

    This paper describes a 20 year old woman with a new combination of neurological impairments in which the motor phenomena were responsive to corticosteroid treatment. She had lifelong moderate learning impairment. A variable ataxia with cerebellar characteristics was present from early life, with early severe exacerbation when seizures were uncontrolled. Atypical absence and simple and complex partial seizures were present from the first year of life and EEG abnormalities were maximal in...

  11. Complex regional pain syndrome related dystonia : exploratory metabolomics and therapeutic studies

    NARCIS (Netherlands)

    Plas, Anton Adriaan van der

    2013-01-01

    Dit proefschrift beschrijft de resultaten van aan aantal studies naar bewegingsstoornissen en pijn bij patiënten met complex regionaal pijnsyndroom (CRPS). Ten eerste werd het effect onderzocht van intrathecaal baclofen op verschillende pijnkwaliteiten bij CRPS-patiënten, de invloed bestudeerd van v

  12. Are the yips a task-specific dystonia or "golfer's cramp"?

    Science.gov (United States)

    Adler, Charles H; Crews, Debra; Kahol, Kanav; Santello, Marco; Noble, Brie; Hentz, Joseph G; Caviness, John N

    2011-09-01

    This study compared golfers with and without the yips using joint movement and surface electromyographic detectors. Fifty golfers (25 with and 25 without complaints of the yips) were studied while putting. All putts were videotaped. Surface electromyography assessed arm cocontraction. A CyberGlove II (Immersion Technologies, Palo Alto, CA) assessed right-arm angular movements. Primary analysis was done by subjective complaint of the yips, whereas secondary analysis was done by video evidence of an involuntary movement. When grouped by subjective complaints, there were no differences in any movement parameter. When grouped by video evidence of an involuntary movement, yips cases had more (P < 0.001) angular movement in wrist pronation/supination and a trend (P = 0.08) for wrist flexor/extensor cocontraction (yips: 7 of 17, 41.2%; no yips: 6 of 33, 18.2%). Golfers with video evidence of an involuntary movement while putting have excessive rotation of the right wrist in a pronation/supination motion and, as previously reported, a trend for wrist flexor/extensor cocontraction.

  13. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

    NARCIS (Netherlands)

    Wortmann, S.B.; Hasselt, P.M. van; Baric, I.; Burlina, A.; Darin, N.; Horster, F.; Coker, M.; Ucar, S. Kalkan; Krumina, Z.; Naess, K.; Ngu, L.H.; Pronicka, E.; Riordan, G.; Santer, R.; Wassmer, E.; Zschocke, J.; Schiff, M.; Meirleir, L. de; Alowain, M.A.; Smeitink, J.A.M.; Morava, E.; Kozicz, L.T.; Wevers, R.A.; Wolf, N.I.; Willemsen, M.A.

    2015-01-01

    Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #61473

  14. Modeling movement disorders¿CRPS-related dystonia explained by abnormal proprioceptive reflexes

    NARCIS (Netherlands)

    Mugge, W.; Munts, A.G.; Schouten, Alfred Christiaan; van der Helm, F.C.T.

    2012-01-01

    Humans control their movements using adaptive proprioceptive feedback from muscle afferents. The interaction between proprioceptive reflexes and biomechanical properties of the limb is essential in understanding the etiology of movement disorders. A non-linear neuromuscular model of the wrist incorp

  15. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    DEFF Research Database (Denmark)

    Engl, Gertraud; Florian, Stefan; Tranebjærg, Lisbeth

    2012-01-01

    -C66W was overexpressed. Live cell microscopy of primary fibroblasts derived from DDON patients and of DDP1 downregulated HeLa cells displayed alterations of mitochondrial morphology with notable extensions in the length of mitochondrial tubules, whereas overexpression of DDP1 induced the formation...

  16. Creation of a Mouse with Stress-Induced Dystonia: Control of an ATPase Chaperone

    Science.gov (United States)

    2013-04-01

    mutagen- esis. AcGFP and DsRed-monomer (Clontech) were used for produc- tion of fusion proteins with torsinA. Golgi apparatus and endoplas- mic reticulum...structure colocalize with Golgi apparatus derived membrane but segregated with ER luminal protein. On the other hand, torsinA-DsRed-monomer distrib-Fig. 1

  17. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    NARCIS (Netherlands)

    Koens, L. H.; Kuiper, A.; Coenen, M. A.; Elting, J. W. J.; de Vries, J. J.; Engelen, M.; Koelman, J. H. T. M.; van Spronsen, F. J.; Spikman, J. M.; de Koning, T. J.; Tijssen, M. A. J.

    2016-01-01

    Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported pr

  18. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

    NARCIS (Netherlands)

    Meyer, Esther; Carss, Keren J.; Rankin, Julia; Nichols, John M. E.; Grozeva, Detelina; Joseph, Agnel P.; Mencacci, Niccolo E.; Papandreou, Apostolos; Ng, Joanne; Barra, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A.; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A.; Israe, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; Mckee, Shane; Misra, Shibalik; Mohammed, Shekeeb S.; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J.; Peters, Gregory B.; Prabhakar, Prab; Reuter, Miriam S.; Rump, Patrick; Sege, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M.; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T.; Winter, Gidon; Wragg, Christopher; Pope, Simon; Heales, Simon J. H.; Morrogh, Deborah; Pittman, Alan; Carr, Lucinda J.; Perez-Duenas, Belen; Lin, Jean-Pierre; Reis, Andre; Gahl, William A.; Toro, Camilo; Bhatia, Kailash P.; Wood, Nicholas W.; Kamsteeg, Erik-Jan; Chong, Wui K.; Gissen, Paul; Topf, Maya; Dale, Russell C.; Chubby, Jonathan R.; Raymond, F. Lucy; Kurian, Manju A.

    2017-01-01

    Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about th

  19. Effect of L-glutamine and isoniazid on torticollis and segmental dystonia.

    Science.gov (United States)

    Korein, J; Lieberman, A; Kupersmith, M; Levidow, L

    1981-09-01

    Fourteen patients with spasmodic torticollis and other segmental dystonic syndromes, who were refractory to previous forms of therapy, were selected for treatment with drugs intended to elevate brain gamma-aminobutyric acid (GABA) levels. These patients were simultaneously given diazepam, isoniazid, pyridoxine, and large doses of L-glutamine. Involuntary spasmodic activity improved to varying degrees in 7 patients; in 2 the dyskinesia became worse. Transient alteration of renal or hepatic function occurred in 6 patients and mild euphoria unrelated to neurological improvement in 8. Two patients are still being treated. Deficiency of GABA may be a factor in some patients with these disorders.

  20. Effects of pharmacological manipulation of GABAergic neurotransmission in a new mutant hamster model of paroxysmal dystonia.

    Science.gov (United States)

    Fredow, G; Löscher, W

    1991-01-10

    Attacks of sustained dystonic postures of limbs and trunk can be initiated by handling or mild environmental stimuli (e.g. new cage) in an inbred line of Syrian hamsters. The severity of the dystonic syndrome in these mutant hamsters (gene symbol dtsz) is age-dependent, with a peak at about 30-40 days of age. A scoring system for grading type and severity of the dystonic attacks can be used to study the activity of drugs against dystonic movements with individual pre- and post-drug vehicle trials as control. In the present experiments, the effects of drugs which alter GABAergic functions in the brain were studied in dystonic hamsters. Anticonvulsants, i.e. valproate, diazepam and phenobarbital, which augment GABAergic neurotransmission, decreased the severity of dystonic attacks in the mutant hamsters, while administration of subconvulsive doses of pentylenetetrazol or the inverse benzodiazepine receptor agonist FG 7142 increased the severity of the syndrome. Anticonvulsants, i.e. phenytoin and carbamazepine, which are not thought to act via effects on GABAergic neurotransmission, exerted no antidystonic effects, but even worsened the attack in several animals. In contrast, the GABA-elevating drug, aminooxyacetic acid, produced a marked antidystonic effect in the hamsters. Similarly, the GABAB receptor agonist, baclofen, significant decreased the severity of the dystonic attack. The data indicate that dystonic movements in dtsz mutant hamsters can be attenuated by drugs which facilitate GABAergic functions, but worsened by drugs which impair GABAergic neurotransmission. These data thus seem to suggest that the dystonic syndrome in dtsz mutant hamsters is under GABAergic influence. The data show furthermore that dystonic hamsters are a suitable model to detect antidystonic effects of drugs.

  1. [Modeling of torsion dystonia through electric stimulation of the vermis cerebellum cortex].

    Science.gov (United States)

    Kryzhanovskiĭ, G N; Shandra, A A; Godlevskiĭ, L S; Mazarati, A M

    1990-08-01

    It was shown in acute experiments on cats that electrical stimulation (ES) (100-300 Hz, 5.0-10.0 V) of cat's cerebellar vermal cortex (lobules V and VI) was followed by head deviation in the direction opposite to that side on which the animal was laying, posture and movement disturbances and also by simultaneously occurred contraction of musculus-antagonists of extremities. The tonic and posture disturbances were observed during 40-60 s after ES cessation. During this time in the zone of ES in cerebellar cortex the high-amplitude synchronized activity was registered which was due to generator of pathologically enhanced excitation (GPEE) formation. Intraperitoneal diazepam (0.5-1.0 mg/kg, 30 min before the observation) pretreatment suppressed GPEE formation that correlated with suppression of syndrome manifestations. The conclusion was made that cerebellar hyperactive cortex, which was due to GPEE induction, might have played the role of pathological hyperactive determinant structure of the described syndrome.

  2. Extrapyramidal Motor Dysfunction and Resultant Orofacial Dystonia Post-Cocaine Abuse: A Clinical Case Study

    Science.gov (United States)

    McMicken, Betty L.; Ostergren, Jennifer A.; Vento-Wilson, Margaret

    2010-01-01

    This case study investigated the consequences of cocaine use and resultant extrapyramidal motor dysfunction. The study focused on a female client, post-long-term drug abuse with concomitant untreated head trauma, experiencing extraneous motor movements of the lips, tongue, jaw, and upper and lower extremities. The goals of this study were to (a)…

  3. Extrapyramidal Motor Dysfunction and Resultant Orofacial Dystonia Post-Cocaine Abuse: A Clinical Case Study

    Science.gov (United States)

    McMicken, Betty L.; Ostergren, Jennifer A.; Vento-Wilson, Margaret

    2010-01-01

    This case study investigated the consequences of cocaine use and resultant extrapyramidal motor dysfunction. The study focused on a female client, post-long-term drug abuse with concomitant untreated head trauma, experiencing extraneous motor movements of the lips, tongue, jaw, and upper and lower extremities. The goals of this study were to (a)…

  4. A Novel Animal Model for Investigating the Neural Basis of Focal Dystonia

    Science.gov (United States)

    2016-09-01

    plasticity, superior colliculus 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT 18. NUMBER OF PAGES 19a. NAME OF RESPONSIBLE PERSON USAMRMC a...with some experience in single  neu ‐ ron recording.   I was unable to hire a postdoctoral fellow  in the first year and have been unable to at‐ tract a...Essential Blepharospasm is a Disorder of Neuroplasticity: Lessons from Animal Models.” J.  Neu ‐ ro‐ophthalmol.  35:374‐379, 2015    Books or other non

  5. Disease: H00831 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias. Nervous...ided into Primary torsin dystonias (PTDs), dystonia-plus syndromes without brain

  6. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

    NARCIS (Netherlands)

    M. Quadri (Marialuisa); A. Federico (Antonio); T. Zhao (Tianna); G.J. Breedveld (Guido); C. Battisti (Carla); C.C.S. Delnooz (Cathérine); E.A.W.F.M. Severijnen (Lies-Anne); L. Di Toro Mammarella (Lara); A. Mignarri (Andrea); L. Monti (Lucia); S. Sanna (Serena); P. Lu (Peng); F. Punzo (Francesca); G. Cossu (Giovanni); R. Willemsen (Rob); G. Rasi; B.A. Oostra (Ben); B. van de Warrenburg (Bart); V. Bonifati (Vincenzo)

    2012-01-01

    textabstractManganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including

  7. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

    NARCIS (Netherlands)

    Quadri, M.; Federico, A.; Zhao, T.; Breedveld, G.J.; Battisti, C.; Delnooz, C.; Severijnen, L.A.; Toro Mammarella, L. Di; Mignarri, A.; Monti, L.; Sanna, A.; Lu, P.; Punzo, F.; Cossu, G.; Willemsen, R.; Rasi, F.; Oostra, B.A.; Warrenburg, B.P.C. van de; Bonifati, V.

    2012-01-01

    Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including

  8. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

    NARCIS (Netherlands)

    Quadri, M.; Federico, A.; Zhao, T.; Breedveld, G.J.; Battisti, C.; Delnooz, C.; Severijnen, L.A.; Toro Mammarella, L. Di; Mignarri, A.; Monti, L.; Sanna, A.; Lu, P.; Punzo, F.; Cossu, G.; Willemsen, R.; Rasi, F.; Oostra, B.A.; Warrenburg, B.P.C. van de; Bonifati, V.

    2012-01-01

    Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including juvenile-on

  9. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

    NARCIS (Netherlands)

    M. Quadri (Marialuisa); A. Federico (Antonio); T. Zhao (Tianna); G.J. Breedveld (Guido); C. Battisti (Carla); C.C.S. Delnooz (Cathérine); E.A.W.F.M. Severijnen (Lies-Anne); L. Di Toro Mammarella (Lara); A. Mignarri (Andrea); L. Monti (Lucia); S. Sanna (Serena); P. Lu (Peng); F. Punzo (Francesca); G. Cossu (Giovanni); R. Willemsen (Rob); G. Rasi; B.A. Oostra (Ben); B. van de Warrenburg (Bart); V. Bonifati (Vincenzo)

    2012-01-01

    textabstractManganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including

  10. [Autonomic control and functional condition of suprasegmental structures of the brain in patients with heart rhythm disorders and vasculo-autonomic dystonia].

    Science.gov (United States)

    Brener, I P; Mymrenko, S N; Goloven'ko, T L

    2003-01-01

    A study was made by the method of combination of electroencephalography (EEG) and variational pulsimetry in 157 patients to determine the background vegetative tone and that very tone during conducting functional tests aimed at activating of sympathetic and parasympathetic portions of the nervous system. Criteria have been established characterizing the vegetative tone. Particular features are described of changes in the power of the EEG wave spectra while conducting tests in those groups being different in their baseline vegetative tone. The percentage is estimated of the incidence rate of the cardiac rhythm disturbances in those groups being different in their vegetative tone.

  11. Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia

    DEFF Research Database (Denmark)

    Henriksen, Carina; Madsen, Lone Bruhn; Bendixen, Christian;

    2009-01-01

    . The TOR1A gene was demonstrated to be localized on porcine chromosome 1. Single nucleotide polymorphism (SNP) analysis revealed several SNPs in the porcine TOR1A gene, both in the coding region and also in the 3′ UTR region. Overexpression of mutant (Δ∆E303-304) porcine TorsinA in neuroblastoma cells...

  12. [Dose-response relationship in the treatment of cervical dystonia with botulinum toxin type A (AGN 191622)--a phase II study].

    Science.gov (United States)

    Mezaki, T; Kaji, R; Kimura, J; Mannen, T

    1995-09-01

    Injection of botulinum toxin type A has been the treatment of choice for spasmodic torticollis for several years. Although previous reports demonstrate its effectiveness and safety, the treatment strategy has been empirical. The present study, using the freeze-dried crystalline botulinum toxin type A (AGN 191622; Allergan Inc., Irvine, CA), aimed to compare the efficacy among three treatment groups divided into low, medium and high dosage levels. Fifty-one patients who entered the study were grouped into low-dose (60 units/session), medium-dose (120 units/session) and high-dose (240 units/session) groups. Two patients (one in low-dose group and the other in high-dose group) were excluded from the assessment of efficacy because they dropped out in the early phase of the study. One experienced worsening of an existing psychosis and the other developed an acute respiratory infection. Injection sites were decided individually by palpation. If the clinical response was not satisfactory four weeks after an injection, the patient was re-injected with the same dose of toxin. The follow-up period was 14 weeks from the initial injection. The results showed that the high-dose group improved more than the other groups in the parameters of severity of symptoms and subjective benefit (p = 0.000). Also, fewer injections were required in the high-dose group to achieve substantial clinical benefit. Although the mean reduction in Tsui's score was not statistically significant among the groups, the "marked improvement" was seen more frequently in the high-dose group (p = 0.033). Unfavorable adverse effects including excessive weakness and dysphasia were always mild and transient.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. Physical development and physical preparedness of students of special medical group with the disease of vegetative-vascular dystonia of mixed type

    Directory of Open Access Journals (Sweden)

    Olchovik A. V.

    2015-03-01

    Full Text Available Purpose : theoretically and experimentally substantiate the effect of the author's physical rehabilitation program to the level of physical development and physical fitness of students. Material : the study involved 40 students. Conducted teacher testing: sprinting, flexion and extension arms in emphasis lying on the floor, the rise in the saddle for 1 min., long jump from their seats, jump up from their seats, shuttle run (4 x 9 meters, torso forward from position sitting. Results : author's physical rehabilitation program includes physiotherapy, therapeutic massage, aqua gym, fitball gymnastics, acupressure and health food. The educational process is aimed at: the normalization of blood pressure and heart rate; balance of excitation and inhibition in the central nervous system; reducing the number of relapses; prevention of complications and hardening of the body; increase the level of physical fitness and health; acquire the necessary professional for students of applied skills. At the workshops, special attention is paid to the medical control, self-control and physical exercise techniques, taking into account contraindications. General and professionally applied physical preparation is carried out taking into account the features of students. Conclusions : It is recommended to attract students to self-realization of physical rehabilitation at home.

  14. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

    Directory of Open Access Journals (Sweden)

    Saima Siddiqi

    Full Text Available The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we performed genome-wide homozygosity mapping accompanied by whole-exome sequencing in two affected first cousins and their unaffected parents to find the causative mutation. We identified a novel homozygous splice-site mutation (c.3512+1G>A in the ALS2 gene (NM_020919.3 encoding alsin that segregated with the disease in this family. Homozygous loss-of-function mutations in ALS2 are known to cause juvenile-onset amyotrophic lateral sclerosis (ALS, one of the many neurological conditions having overlapping symptoms with many neurological phenotypes. RT-PCR validation revealed that the mutation resulted in exon-skipping as well as the use of an alternative donor splice, both of which are predicted to cause loss-of-function of the resulting proteins. By examining 216 known neurological disease genes in our exome sequencing data, we also identified 9 other rare nonsynonymous mutations in these genes, some of which lie in highly conserved regions. Sequencing of a single proband might have led to mis-identification of some of these as the causative variant. Our findings established a firm diagnosis of juvenile ALS in this family, thus demonstrating the use of whole exome sequencing combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.

  15. A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

    OpenAIRE

    Saima Siddiqi; Jia Nee Foo; Anthony Vu; Saad Azim; Silver, David L.; Atika Mansoor; Stacey Kiat Hong Tay; Sumiya Abbasi; Asraf Hussain Hashmi; Jamal Janjua; Sumbal Khalid; E Shyong Tai; Gene W Yeo; Chiea Chuen Khor

    2014-01-01

    The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we performed genome-wide homozygosity mapping accompanied by whole-exome sequencing in two affected first cous...

  16. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

    Science.gov (United States)

    Siddiqi, Saima; Foo, Jia Nee; Vu, Anthony; Azim, Saad; Silver, David L; Mansoor, Atika; Tay, Stacey Kiat Hong; Abbasi, Sumiya; Hashmi, Asraf Hussain; Janjua, Jamal; Khalid, Sumbal; Tai, E Shyong; Yeo, Gene W; Khor, Chiea Chuen

    2014-01-01

    The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we performed genome-wide homozygosity mapping accompanied by whole-exome sequencing in two affected first cousins and their unaffected parents to find the causative mutation. We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family. Homozygous loss-of-function mutations in ALS2 are known to cause juvenile-onset amyotrophic lateral sclerosis (ALS), one of the many neurological conditions having overlapping symptoms with many neurological phenotypes. RT-PCR validation revealed that the mutation resulted in exon-skipping as well as the use of an alternative donor splice, both of which are predicted to cause loss-of-function of the resulting proteins. By examining 216 known neurological disease genes in our exome sequencing data, we also identified 9 other rare nonsynonymous mutations in these genes, some of which lie in highly conserved regions. Sequencing of a single proband might have led to mis-identification of some of these as the causative variant. Our findings established a firm diagnosis of juvenile ALS in this family, thus demonstrating the use of whole exome sequencing combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.

  17. Expanding the phenotype in aminoacylase 1 (ACY1) deficiency : characterization of the molecular defect in a 63-year-old woman with generalized dystonia

    NARCIS (Netherlands)

    Sass, Joern Oliver; Vaithilingam, Jathana; Gemperle-Britschgi, Corinne; Delnooz, Catherine C. S.; Kluijtmans, Leo A. J.; van de Warrenburg, Bart P. C.; Wevers, Ron A.

    Aminoacylase 1 (ACY1) deficiency is an organic aciduria due to mutations in the ACY1 gene. It is considered much underdiagnosed. Most individuals known to be affected by ACY1 deficiency have presented with neurologic symptoms. We report here a cognitively normal 63-year-old woman who around the age

  18. Noxious electrical stimulation of the pelvic floor and vagina induces transient voiding dysfunction in a rabbit survival model of pelvic floor dystonia

    OpenAIRE

    Dobberfuhl, Amy D.; Spettel, Sara; Schuler, Catherine; Levin, Robert M.; Dubin, Andrew H.; De, Elise J.B.

    2015-01-01

    Purpose Existing data supports a relationship between pelvic floor dysfunction and lower urinary tract symptoms. We developed a survival model of pelvic floor dysfunction in the rabbit and evaluated cystometric (CMG), electromyographic (EMG) and ambulatory voiding behavior. Materials and Methods Twelve female adult virgin rabbits were housed in metabolic cages to record voiding and defecation. Anesthetized CMG/EMG was performed before and after treatment animals (n=9) received bilateral tetan...

  19. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

    NARCIS (Netherlands)

    Maas, R.R.; Marina, A.D.; Brouwer, A.P.M. de; Wevers, R.A.; Rodenburg, R.J.T.; Wortmann, S.B.

    2016-01-01

    SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with

  20. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

    NARCIS (Netherlands)

    Maas, R.R.; Marina, A.D.; Brouwer, A.P.M. de; Wevers, R.A.; Rodenburg, R.J.T.; Wortmann, S.B.

    2016-01-01

    SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with

  1. Neurodegeneration with Brain Iron Accumulation

    Science.gov (United States)

    ... of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted ... of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted ...

  2. *605204 TORSIN 1A; TOR1A [OMIM

    Lifescience Database Archive (English)

    Full Text Available gene as the cause of focal dystonia among 18 musicians with the disorder, includ... Charness, M. E.: The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurolog

  3. Características clínicas da distonia no parkinsonismo atípico

    OpenAIRE

    Clecio Godeiro-Junior; Andre C. Felício; Orlando G. P. Barsottini; Patricia M. de Carvalho Aguiar; Sonia M. A Silva; Vanderci Borges; Ferraz, Henrique B.

    2008-01-01

    BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first ...

  4. Consideration of genetic contributions to the risk for spasmodic dysphonia.

    Science.gov (United States)

    Sharma, Nutan; Franco, Ramon A

    2011-09-01

    Spasmodic dysphonia, a form of the neurologic condition known as dystonia, results from involuntary spasms of the larynx, producing interruptions of speech and changes in voice quality. The pathogenesis of spasmodic dysphonia is not well understood. However, several genetic mutations have been identified that cause different forms of dystonia. In some individuals, these genetic mutations result in spasmodic dysphonia, either with no other signs of dystonia or as part of a broader dystonia phenotype. Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia.

  5. Hiperemezis Gravidarumda Metoklopramid Kullanımına Bağlı Gelişen Distoni: Olgu Sunumu

    OpenAIRE

    B, Çakmak

    2014-01-01

    Metoclopramide is an anti-emetic drug used frequently in hyperemesis gravidarum with dopamine receptor antagonistic properties. Acute dystonia is a rare side effect of metoclopramide encountered especially in children and young adults at first 3 days of treatment. In this case report, dystonia developed after metoclopramide treatment in a woman with hyperemesis gravidarum is presented and it is emphasized that in women with hyperemesis gravidarum, dystonia might be regarded as a side effect o...

  6. Aripiprazole-induced writer’s cramp: a case report

    OpenAIRE

    Priyajyoti Chakma; Punyadhar Das

    2016-01-01

    Dystonia is a movement disorder, which causes sustained muscle contractions, twisting movements, and abnormal postures. Writer’s cramp is the most commonly identified tasks-specific focal dystonia of writing, characterised by abnormal muscle spasm of hand and arm. Even in the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10), writer’s cramp is classified under idiopathic nonfamilial dystonias. Our case was a 20 years, Hindu, unmarr...

  7. Distonia laríngea de adução: proposta e avaliação de protocolo de nasofibrolaringoscopia Adduction laryngeal dystonia: proposal and evaluation of nasofibroscopy

    OpenAIRE

    2006-01-01

    Distonias são desordens orgânicas do processamento motor central caracterizadas por contrações musculares involuntárias e espasmos à fonação nas formas laríngeas adutoras, com quebras de sonoridade. O diagnóstico é clínico e baseado na avaliação perceptivo-auditiva da voz e nasofibroscopia. OBJETIVO: O nosso objetivo é propor e avaliar um protocolo de exame de nasofibrolaringoscopia que contemple tarefas que evidenciem os espasmos e tarefas que diminuam ou façam desaparecer os espasmos, visan...

  8. 多巴反应性肌张力不全误诊脑瘫1例%Dopa-responsive dystonia was misdiagnosed as cerebral palsy: a case report and literature review

    Institute of Scientific and Technical Information of China (English)

    钟晨; 张晓丽

    2014-01-01

    目的:总结多巴反应性肌张力不全的临床特点,提高对该病的认识.方法:报道1例因误诊为脑性瘫痪而进行康复训练的多巴反应性肌张力不全患儿的临床资料,总结经验教训并进行文献复习.结果:1例因步态异常4个月被误诊为脑性瘫痪.康复训练3个月,因疾病进展与脑瘫特点不符而再次引起注意,服用左旋多巴制剂诊断性治疗后确诊.结论:多巴反应性肌张力不全临床上少见,大多于儿童期发病,常以步态异常为首发症状,易误诊为脑性瘫痪,康复科医生需提高对该病的认识,避免浪费有限的康复资源,延误该病的治疗.

  9. Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

    DEFF Research Database (Denmark)

    Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

    lead to functionally altered, but active, Na+, K+-pumps that display reduced apparent affinity for cytoplasmic Na+, but the underlying mechanism differs between the mutants. In Phe785Leu, the interaction of the E1 form with Na+ is defective, and the E1-E2 equilibrium is not displaced. In Thr618Met......, the Na+ affinity is reduced because of displacement of the conformational equilibrium in favor of the K+-occluded E2(K2) form. In both mutants, K+ interaction at the external activating sites of the E2P phosphoenzyme is normal. The change of cellular Na+ homeostasis is likely a major factor contributing...... that the aromatic function of the side chain, as well as its exact position, is critical for Na+ and ouabain binding. Structural modeling demonstrates that substitution of Phe785 disturbs its participation in a hydrophobic network between three transmembrane segments. It also indicates that the Thr618Met mutation...

  10. Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

    DEFF Research Database (Denmark)

    Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

    to functionally altered, but active, Na+, K+-pumps that display reduced apparent affinity for cytoplasmic Na+, but the underlying mechanism differs between the mutants. In Phe785Leu, the interaction of the E1 form with Na+ is defective, and the E1-E2 equilibrium is not displaced. In Thr618Met, the Na+ affinity...... is reduced because of displacement of the conformational equilibrium in favor of the K+-occluded E2(K2) form. In both mutants, K+ interaction at the external activating sites of the E2P phosphoenzyme is normal. The change of cellular Na+ homeostasis is likely a major factor contributing to the development...... function of the side chain, as well as its exact position, is critical for Na+ and ouabain binding. The effects of substituting Phe785 could be explained by structural modeling, demonstrating that Phe785 participates in a hydrophobic network between three transmembrane segments. Thr618 is located...

  11. 78 FR 21613 - Prescription Drug User Fee Act Patient-Focused Drug Development; Announcement of Disease Areas...

    Science.gov (United States)

    2013-04-11

    ... obstructive pulmonary disease, lysosomal storage disorders, peripheral neuropathy, dystonia, and fibromyalgia... Chagas disease; female sexual dysfunction; fibromyalgia; hemophilia A, hemophilia B, von...

  12. Disease: H00874 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00874 Leukoencephalopathy with dystonia and motor neuropathy Leukoencephalopathy w...D, Wanders RJ, Duran M, Marziniak M Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopat...hy with dystonia and motor neuropathy. Am J Hum Genet 78:1046-52 (2006) ...

  13. DYT1和DYT5的临床和遗传特征%Clinical and genetic features of DYT1 and DYT5

    Institute of Scientific and Technical Information of China (English)

    王小竹; Nanbert ZHONG

    2006-01-01

    Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD(DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.

  14. [Hemo- and neurodynamics of the human brain during exposure to moderate hypoxic hypoxia].

    Science.gov (United States)

    Alekseev, D A; Zubarev, A F; Krupina, T N; Iarullin, Kh Kh; Kuznets, E I

    1984-01-01

    Synchronous electro- and rheoencephalography were used to study tolerance to moderate hypoxic hypoxia for 30 min at an altitude of 5000 m without additional oxygen supply. As test subject, men with autonomic-vascular dystonia (29-39 years old), 15 men over 40 (41-56 years old), and 16 essentially healthy controls (23-36 years old) were used. The aged volunteers (41-56 years old) did not differ from the controls with respect to their tolerance to hypoxic hypoxia. The men with early symptoms of hypertonic-type dystonia also showed high tolerance to hypoxic hypoxia. The subjects with hypotonic-type dystonia displayed lower tolerance.

  15. Parkinson’s Disease and Its Management: Part 4: Treatment of Motor Complications

    OpenAIRE

    DeMaagd, George; Philip, Ashok

    2015-01-01

    Parkinson’s motor complications include wearing-off, a delayed or absent response to carbidopa/levodopa therapy, freezing of gait, dyskinesias, and dystonias. Treatment may include medication adjustments, such as increased dopaminergic stimulation.

  16. Diet and Nutrition

    Science.gov (United States)

    ... need to know about Wilson Disease Diet and Nutrition Food . . . . Adherence to a low copper diet is ... dysarthria; rigid dystonia; pseudobulbar palsy; seizures; migraine headaches; insomnia Psychiatric: Depression; neuroses; personality changes; psychosis Other symptoms: ...

  17. Disease: H01255 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available he major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurolo...gical abnormalities such as dystonia. Nervous system dis

  18. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    NARCIS (Netherlands)

    Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d'Amati, Giulia; Tiranti, Valeria

    Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2,

  19. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    NARCIS (Netherlands)

    Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d'Amati, Giulia; Tiranti, Valeria

    2014-01-01

    Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2,

  20. Ethical issues in deep brain stimulation

    NARCIS (Netherlands)

    M.H.N. Schermer (Maartje)

    2011-01-01

    textabstractDeep brain stimulation (DBS) is currently used to treat neurological disorders like Parkinson's disease, essential tremor, and dystonia, and is explored as an experimental treatment for psychiatric disorders like major depression and obsessive compulsive disorder. This mini review

  1. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    NARCIS (Netherlands)

    Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d'Amati, Giulia; Tiranti, Valeria

    2014-01-01

    Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2,

  2. Basal ganglia dysfunction

    Science.gov (United States)

    ... ganglia dysfunction. They include: Dystonia (muscle tone problems) Huntington disease (disorder in which nerve cells in certain parts ... ed. Philadelphia, PA: Elsevier Mosby; 2013:chap 20. Review Date 5/30/2016 Updated by: Amit M. ...

  3. Genetics of Stiff Child Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-11-01

    Full Text Available A Chinese boy with a DYT1 gene mutation presented with muscle stiffness, painful muscle spasms, myoclonus, and dystonia, compatible with stiff child syndrome, and is reported from Queen Mary Hospital, the University of Hong Kong.

  4. First episode schizophrenia

    African Journals Online (AJOL)

    chronic state of residual symptoms and functional impairment. As the name indicates, ... response to antipsychotic treatment, and thus the long-term course of the .... Hallucinations. • Disorganised speech ... Stereotypic movements. • Dystonia.

  5. Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

    Directory of Open Access Journals (Sweden)

    Pedro J. Garcia-Ruiz

    2015-01-01

    Full Text Available Pantothenate kinase-associated neurodegeneration (PKAN is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS has been carried out in selected cases of PKAN with drug-resistant dystonia with variable results. We report a 30-month follow-up study of a 30-year-old woman with PKAN-related dystonia treated with GPi DBS. Postoperatively, the benefit quickly became evident, as the patient exhibited a marked improvement in her dystonia, including her writing difficulty. This result has been maintained up to the present. GPi DBS should be considered in dystonic PKAN patients provided fixed contractures and/or pyramidal symptoms are not present.

  6. Diagnosis and management of glutaric aciduria type I - revised recommendations

    NARCIS (Netherlands)

    Koelker, Stefan; Christensen, Ernst; Leonard, James V.; Greenberg, Cheryl R.; Boneh, Avihu; Burlina, Alberto B.; Burlina, Alessandro P.; Dixon, Marjorie; Duran, Marinus; Garcia Cazorla, Angels; Goodman, Stephen I.; Koeller, David M.; Kyllerman, Marten; Muehlhausen, Chris; Mueler, Edith; Okun, Juergen G.; Wilcken, Bridget; Hoffmann, Georg F.; Burgard, Peter

    2011-01-01

    Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises pre

  7. Diagnosis and management of glutaric aciduria type I--revised recommendations

    DEFF Research Database (Denmark)

    Kölker, Stefan; Christensen, Ernst; Leonard, James V

    2011-01-01

    Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises ...

  8. Symptoms and Diagnosis

    Science.gov (United States)

    ... Differential Disorders Frequently Asked Questions Glossary Downloadable Publications Symptoms and Diagnosis If you are new to dystonia, it can ... be accounted for: ► The age at which the symptoms started. The age at which symptoms begin is ...

  9. Genetics Home Reference: mitochondrial membrane protein-associated neurodegeneration

    Science.gov (United States)

    ... movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people with MPAN have a pattern of movement abnormalities known as parkinsonism. These abnormalities include ... muscle rigidity, involuntary trembling (tremors), and an inability to ...

  10. Concomitant Appearance of Pisa Syndrome and Striatal Hand in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2011-10-01

    Full Text Available Pisa syndrome is (PS usually seen in patients receiving antipsychotic drugs and characterised by lateral flexion of trunk and axial dystonia. It is believed that antipsychotic drugs lead to dopamine blockage causing PS. We describe a Parkinson’s disease patient who was doing well with levodopa/carbidopa for 3 years and developed lateral flexion of trunk. His abnormal posture used to completely improve upon lying down position. He also had striatal hand deformity suggestive of focal dystonia.

  11. [Clinical features of spastic dysphonia].

    Science.gov (United States)

    Vasilenko, Iu S; Golubev, V L; Debrianskaia, M B

    1995-01-01

    Clinical, neurological, endoscopic, psychological findings, questionnaire data on vegetative sphere, diaphragm x-ray, articulation test and Viene test system evidence obtained on 25 patients with phonic spasm confirm organic neurological nature of spastic dysphonia as focal muscular dystonia. This condition can be accompanied with tremor, rotatory, winking and writers' spasms, oromandibular dystonia. As indicated by positive treatment outcomes, combined treatment of phonic spasm with GABA-ergic drugs of clonazepam (antelepsin) and baclofen, orthophonic voice correction, physiotherapy is pathogenetically justified.

  12. Writer's cramp in spinocerebellar ataxia Type 1

    Science.gov (United States)

    Khwaja, Geeta Anjum; Srivastava, Abhilekh; Ghuge, Vijay Vishwanath; Chaudhry, Neera

    2016-01-01

    Dystonia can be encountered in a small subset of patients with spinocerebellar ataxia (SCA), but task specific dystonia is extremely rare. We report a case of a 48-year-old male with confirmed SCA Type 1 (SCA1) with mild progressive cerebellar ataxia and a prominent and disabling Writer's cramp. This case highlights the ever-expanding phenotypic heterogeneity of the SCA's in general and SCA1 in particular. PMID:27695243

  13. Disease: H01365 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01365 Leber hereditary optic neuropathy and dystonia (LDYT) Leber hereditary optic...ociated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 9...o J, Lou JN, Tsuji S Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and...MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ A MELAS-associated ND1 mutation causing leber

  14. Experimental Therapeutics Against the Toxic and Lethal Effects Resulting from Acute Exposure to Nerve Agents Without Carbamate Pretreatment in Guinea Pigs

    Science.gov (United States)

    2010-09-01

    The "Bradypnea" stage was generally preceded by episodes of ataxic or dyspneic breathing. Seizures and convulsions typically continued during...acute agent exposure. These included oro-facial movements (indicative of immoderate secretion), mild degree of dystonia/ ataxia , and a short period of...periods of acute cholinergic effects (mucoid-salivary secretion, dystonia, ataxia , tremors and fasciculations) were seen shortly after intoxication

  15. 急性硫化氢中毒后阵发性自主神经不稳与肌张力不全1例分析%A case analysis on paroxysmal autonomic instability with dystonia after acute hydrogen sulfide poisoning

    Institute of Scientific and Technical Information of China (English)

    覃震晖; 苏素花; 刘丽萍

    2011-01-01

    目的 探讨急性硫化氢(H2S)中毒后阵发性自主神经功能不稳与肌张力不全(PAID)的临床特点及治疗对策.方法 回顾性分析本院收治的1例急性H2S中毒后PAID患者的临床资料.结果 患者出现阵发性躁动、发热、多汗、呼吸急促、心动过速、血压升高、肌张力障碍和抽搐症状,经治疗后,处于植物状态,遗留间断性肌张力不全.结论 急性H2S中毒后PAID是脑损伤后康复阶段较少见的一个并发症,临康上尚无特效的治疗手段.

  16. 肌电图引导局部肌肉注射A型肉毒毒素治疗痉挛性斜颈的疗效观察%Observation of the curative effects of local intramuscullar injection with botulinum toxin type A guided by electromyography on treating cervical dystonia

    Institute of Scientific and Technical Information of China (English)

    姚朝娅; 吴婷; 李敏; 侯熙德

    2011-01-01

    目的 观察肌电图(EMG)引导局部肌肉注射A型肉毒毒素(BTX-A)治疗痉挛性斜颈(CD)的疗效.方法 应用EMG检查19例CD患者头颈部152块肌肉,针对放松状态下出现的多频群放电位的114块靶肌肉进行BTX-A局部肌肉注射;治疗前后分别采用Tsui量表对病情和疗效进行评估;随访观察疗效持续时间以及不良反应.结果 治疗后EMG发现靶肌肉5块;根据Tsui量表评分,治疗后总有效率第1周为47.3%,第2周为78.9%,第3、4周均为94.7%;随访显示疗效平均保持10个月;不良反应轻微,均在4周内自行缓解.结论 EMG引导局部肌肉注射BTX-A治疗CD安全有效.

  17. Study on the gene mutation of spinocerebellar ataxia types 1~3 in patients with primary dystonia%原发性肌张力障碍患者脊髓小脑性共济失调1~3型基因突变的研究

    Institute of Scientific and Technical Information of China (English)

    李桂冰; 王进

    2008-01-01

    目的 研究原发性肌张力障碍患者脊髓小脑性共济失调(SCA)1~3型基因的突变.方法 采用聚合酶链反应(PCR)方法对一家父子2例原发性肌张力障碍患者及其21名家系健康成员SCA1~3型基因CAG重复数进行检测.结果 2例原发性肌张力障碍患者SCA3基因突变,其异常等位基因的CAG重复数为80和75;SCA1、SCA2基因无突变.家系健康成员SCA1~3基因均无突变.结论 原发性肌张力障碍患者有SCA3基因突变;其可能与原发性肌张力障碍的发病有关.

  18. Clinical Observation of Reducing Yin and Reinforcing Yang Companied with Contralateral Channel Needling in Treating Dystonia after Stroke Based on Modified Ashworth Spasm Scale%泻阴补阳合巨刺针刺法治疗脑卒中后肌张力障碍Ashworth痉挛量表的临床疗效观察

    Institute of Scientific and Technical Information of China (English)

    李作伟; 李平; Eudes Saturnin Régis ITOUA; Fran(c)oise NDINGA ANDELY; Donatien MOUKASSA

    2016-01-01

    目的:观察泻阴补阳合巨刺法治疗脑卒中后肌张力障碍Ashworth痉挛量表的临床疗效.方法:120例脑卒中后肌张力障碍患者采用随机分组法分为治疗组A组和对照组B、C、D组,治疗组采用泻阴补阳合巨刺针刺法,对照组B组采用传统针刺法合巨刺法,C组采用泻阴补阳针刺法,D组采用传统针刺法,每组各30例患者,每位患者均在脑卒中的西医常规治疗方法的基础上进行治疗.治疗前后采用Ashworth痉挛量表进行评定.结果:泻阴补阳合巨刺法对脑卒中后肌张力障碍的治疗效果明显优于对照组.结论:泻阴补阳合巨刺法对脑卒中后肌张力障碍的疗效显著,能有效改善患者的运动功能和生活能力.

  19. 脑深部电刺激治疗迟发性肌张力障碍一例报道并文献复习%Deep brain stimulation in the treatment of tardive dystonia:a case report and review of literatures

    Institute of Scientific and Technical Information of China (English)

    张建国; 张凯; 王忠诚

    2004-01-01

    目的观察脑深部电刺激治疗1例迟发性肌张力障碍的手术效果.方法在微电极的引导下,将刺激电极植入双侧丘脑底核,分别于术前、术后1个月、术后3个月为患者进行UDRS和BFMS评分,评价治疗效果.结果术前、术后1个月、术后3个月的UDRS评分分别为94、38和7.5,BFMS评分分别为98.5、42.5和8,随访3个月的症状缓解率在90%以上,无手术并发症.结论双侧电刺激丘脑底核治疗迟发性肌张力障碍初步显示出良好的效果.

  20. Clinical variability in ataxia-telangiectasia.

    Science.gov (United States)

    Lohmann, Ebba; Krüger, Stefanie; Hauser, Ann-Kathrin; Hanagasi, Hasmet; Guven, Gamze; Erginel-Unaltuna, Nihan; Biskup, Saskia; Gasser, Thomas

    2015-07-01

    Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, choreoathetosis and telangiectasias of the conjunctivae. Further symptoms may be immunodeficiency and frequent infections, and an increased risk of malignancy. As well as this classic manifestation, several other non-classic forms exist, including milder or incomplete A-T phenotypes caused by homozygous or compound heterozygous mutations in the ATM gene. Recently, ATM mutations have been found in 13 Canadian Mennonites with early-onset, isolated, predominantly cervical dystonia, in a French family with generalized dystonia and in an Indian family with dopa-responsive cervical dystonia. In this article, we will describe a Turkish family with three affected sibs. Their phenotypes range from pure cervical dystonia associated with hand tremor to truncal and more generalized dystonic postures. Exome sequencing has revealed the potentially pathogenic compound heterozygous variants p.V2716A and p.G301VfsX19 in the ATM gene. The variants segregated perfectly with the phenotypes within the family. Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased. This report supports recent literature showing that ATM mutations are not exclusively associated with A-T but may also cause a more, even intra-familial variable phenotype in particular in association with dystonia.

  1. Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.

    Science.gov (United States)

    Piedimonte, Fabián; Andreani, Juan Carlos; Piedimonte, Leandro; Micheli, Federico; Graff, Pablo; Bacaro, Valeria

    2015-02-01

    Lesch-Nyhan disease (LND) is a hereditary disorder characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The lack of a precise understanding of the neurological dysfunction has precluded the development of useful conservative therapies. We present our experience treating a LND patient by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) with improvement in dystonia symptoms and disappearance of self-injurious behavior. We present a 29-year-old patient characterized by generalized severe dystonia and self-injurious behavior, both refractory to conservative treatment. The patient underwent a GPi bilateral electrode implant for chronic stimulation. Symptoms were evaluated with the Burke-Fhan-Marsden Dystonia Rating Scale (BFMDRS) and Mean Disability Scale (MDS) preoperatively and during the five-year follow-up. We observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior. This case supports the hypothesis that automutilation in LND might be related to dysfunction of the basal ganglia circuits and the idea that bilateral GPi-DBS is a safe and effective treatment modality for this condition. © 2015 International Neuromodulation Society.

  2. Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease.

    Science.gov (United States)

    Abel, Taylor J; Dalm, Brian D; Grossbach, Andrew J; Jackson, Adam W; Thomsen, Teri; Greenlee, Jeremy D W

    2014-12-01

    Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. This syndrome is characterized by hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia. The authors describe the case of a 15-year-old boy who underwent bilateral placement of globus pallidus internus (GPi) deep brain stimulation (DBS) electrodes for the treatment of generalized dystonia. His self-mutilating behavior gradually disappeared several weeks after the start of GPi stimulation. The dystonia and self-mutilating behavior returned on the left side only after a right lead fracture. This case is the first reported instance of LND treated with DBS in which the stimulation was interrupted and the self-mutilation returned in a lateralized fashion. The findings indicate that the neurobehavioral aspect of LND is lateralized and that contralateral GPi stimulation is responsible for lateralized improvement in self-injurious behavior.

  3. Botulinum Toxin in Secondarily Nonresponsive Patients with Spasmodic Dysphonia.

    Science.gov (United States)

    Mor, Niv; Tang, Christopher; Blitzer, Andrew

    2016-09-01

    Chemodenervation with botulinum toxin (BoNT) has been effective and well tolerated for all types of dystonia for >30 years. We reviewed outcomes of our patients treated with BoNT serotype A (BoNT-A) for spasmodic dysphonia (SD) who became secondarily nonresponsive. We found that 8 of 1400 patients became nonresponsive to BoNT-A (0.57%), which is lower than the secondary nonresponse rate in other dystonias. After a cessation period, 4 of our patients resumed BoNT-A injections, and recurrence of immunoresistance was not seen in any of them. When compared with patients with other dystonias, patients with SD receive extremely low doses of BoNT. Small antigen challenge may explain the lower rate of immunoresistance and long-lasting efficacy after BoNT-A is restarted among secondary nonresponsive patients with SD.

  4. Aripiprazole-induced writer’s cramp: a case report

    Directory of Open Access Journals (Sweden)

    Priyajyoti Chakma

    2016-07-01

    Full Text Available Dystonia is a movement disorder, which causes sustained muscle contractions, twisting movements, and abnormal postures. Writer’s cramp is the most commonly identified tasks-specific focal dystonia of writing, characterised by abnormal muscle spasm of hand and arm. Even in the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10, writer’s cramp is classified under idiopathic nonfamilial dystonias. Our case was a 20 years, Hindu, unmarried, literate of middle socioeconomic status, from urban part of Tripura. He presented with history of difficulty to write because of a stiffening of his right hand and also he noticed that prolonged period of writing caused cramping pain. He was a diagnosed case of paranoid schizophrenia (F20.0 as per ICD-10 for last three years and was on tablet aripiprazole. Diagnosis of writer’s cramp was made which developed after six months of treatment with aripiprazole 15 mg.

  5. Yips and other movement disorders in golfers.

    Science.gov (United States)

    Dhungana, Samish; Jankovic, Joseph

    2013-05-01

    Golf is a sport that requires perfect motor coordination and a balance between mobility and stability. Golfer's "yips," an intermittent motor disturbance manifested as transient tremor, jerk, or spasm that primarily occurs when the player is trying to chip or make a putt, is a movement disorder frequently encountered in both amateur and professional golfers. In addition, other movement disorders, such as tremors and dystonia, also can interfere with playing golf. Although the pathophysiology of the yips remains poorly understood, recent studies suggest that it may be a form of a task-specific, focal dystonia involving the hand and arm. Because task-specific dystonias and tremors are best treated by botulinum toxin injections, this also may be an effective therapy for the yips. The aim of this article is to systematically review the literature and our own experience with the yips and other movement disorders in golfers.

  6. A subtle mimicker in emergency department

    Science.gov (United States)

    Angelis, Maria Vittoria De; Giacomo, Roberta Di; Muzio, Antonio Di; Onofrj, Marco; Bonanni, Laura

    2016-01-01

    Abstract Background: Movement disorder emergencies include any movement disorder which develops over hours to days, in which failure to appropriately diagnose and manage can result in patient morbidity or mortality. Movement disorder emergencies include acute dystonia: sustained or intermittent muscle contractions causing abnormal, often repetitive, movements. Acute dystonia is a serious challenge for emergency room doctors and neurologists, because of the high probability of misdiagnosis, due to the presence of several mimickers including partial seizures, meningitis, localized tetanus, serum electrolyte level abnormalities, strychnine poisoning, angioedema, malingering, catatonia, and conversion. Methods: We describe 2 examples, accompanied by videos, of acute drug-induced oro-mandibular dystonia, both subsequent to occasional haloperidol intake. Results: Management and treatment of this movement disorder are often difficult: neuroleptics withdrawal, treatment with benzodiazepines, and anticholinergics are recommended. Conclusion: Alternative treatment options are also discussed. PMID:27741141

  7. Historical developments in children's deep brain stimulation.

    Science.gov (United States)

    Cif, Laura; Coubes, Philippe

    2017-01-01

    Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus. The role of DBS in acquired, neurometabolic and degenerative disorders with dystonia deserves further exploration to confirm as an efficient and lasting therapy. However, the pathobiological background with distribution of the sequellae over the central nervous system and related clinical features, will limit DBS efficacy in these conditions. Cumulative arguments propose DBS in severe life threatening dystonic conditions called status dystonicus as first line therapy, irrespective of the underlying cause. There are no currently available validated selection criteria for DBS in pediatric dystonia. Concurrent targets such as subthalamic nucleus (STN) and several motor nuclei of the thalamus are under exploration and only little information is available in children. DBS programming in paediatric population was adopted from experience in adults. The choice of neuromodulatory DBS parameters could influence not only the initial therapeutic outcome of dystonic symptoms but also its maintenance over time and potentially the occurrence of DBS related side effects. DBS allows efficient symptomatic treatment of severe dystonia in children and advances pathophysiological knowledge about local and distributed abnormal neural activity over the motor cortical-subcortical networks in dystonia and other movement disorders. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights

  8. Pallidal deep brain stimulation in a 5-year-old child with dystonic storm: case report.

    Science.gov (United States)

    Aydin, Sabri; Abuzayed, Bashar; Uysal, Serap; Unver, Olcay; Uzan, Mustafa; Mengi, Murat; Kizilkilic, Osman; Hanci, Murat

    2013-01-01

    A 5-year-old child had a medical history of epilepsy and a newly presented mental retardation with a life-threatening dystonic storm. Neuroimagings showed bilateral calcification of the pallidum. Several treatment modalities were performed, but the symptoms showed no significant improvement. The patient was operated on in order to place a deep brain stimulation (DBS) targeting bilateral globus pallidum internus (GPi). The dystonia showed a remarkable improvement after surgery, with 81% reduction of dystonia severity after 15 months. To our best knowledge, this is the youngest patient mentioned in the literature to be treated with DBS, which was also life-saving in this case.

  9. [A case of Meige's syndrome associated with post head trauma].

    Science.gov (United States)

    Kimura, T; Deshimaru, M; Inukai, K; Matsunaga, T; Miyakawa, T

    1992-11-01

    The pathogenesis of Meige's syndrome (MS) is controversial and has yet to be determined up to today. We studied a case of MS associated with post head trauma. The patient was a 52-year-old female. At the age of 46, she began to suffer from oro-lingual dystonia after head trauma induced by a traffic accident and the brief administration of neuroleptics to the delusion deteriorated the dystonia. She showed a wry appearance after 1 year and 6 months of the trauma and began to exhibit blepharospasms, oro-mandibular dystonia and cervical dystonia after 2 years and 3 months. For these symptoms her daily life became difficult. These symptoms were resistant to various drug therapies, although trihexyphenidyl relieved the symptoms transiently. Laboratory examinations and cranial MRI findings were normal. By surface electromyogram of ocular orbicular muscles, bilateral continuous discharge was observed. This patient was diagnosed as MS by clinical symptoms and surface electromyogram findings. It was inferred that the head trauma was associated with the development of MS. We discussed the pathogenesis of MS in the present case and it was speculated that MS was presented by a minute lesion of the brain stem which was produced at the time of the head trauma.

  10. Disease: H01201 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available stem disease TIMM8A [HSA:1678] [KO:K17780] Mohr-Tranebjaerg syndrome [DS:H00989] is also cause... feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet 22:207-23 (2001) ...

  11. Ethical issues in deep brain stimulation

    NARCIS (Netherlands)

    M.H.N. Schermer (Maartje)

    2011-01-01

    textabstractDeep brain stimulation (DBS) is currently used to treat neurological disorders like Parkinson's disease, essential tremor, and dystonia, and is explored as an experimental treatment for psychiatric disorders like major depression and obsessive compulsive disorder. This mini review discus

  12. Intrathecal Baclofen Therapy: Benefits and Complications

    Science.gov (United States)

    Zdolsek, Helena Aniansson; Olesch, Christine; Antolovich, Giuliana; Reddihough, Dinah

    2011-01-01

    Background: Spasticity and dystonia in children with cerebral palsy has been treated with intrathecal baclofen therapy (ITB) at the Royal Children's Hospital, Melbourne, Australia (RCH) since 1999. Methods: The records of children having received or still receiving ITB during the period September 1999 until August 2005 were studied to evaluate…

  13. Paroxysmal kinesigenic dyskinesia : Cortical or non-cortical origin

    NARCIS (Netherlands)

    van Strien, Teun W.; van Rootselaar, Anne-Fleur; Hilgevoord, Anthony A. J.; Linssen, Wim H. J. P.; Groffen, Alexander J. A.; Tijssen, Marina A. J.

    2012-01-01

    Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-co

  14. Central Pontine and Extrapontine Myelinolysis in Encephalitis

    Directory of Open Access Journals (Sweden)

    Suvrendu Sankar Kar

    2013-08-01

    Full Text Available A 15 years male presented with fever, convulsion, unconsciousness and dystonia of acute onset. He was investigated and treated. MRI brain shows central pontine and extrapontine myelinolysis. Osmotic injury, Wilson's disease and other possibilities were excluded by clinical findings with supportive investigations. Patient was improved satisfactorily with treatment. [Natl J Med Res 2013; 3(4.000: 420-421

  15. Bilateral pallidal deep brain stimulation in idiopathic dystonic camptocormia

    Directory of Open Access Journals (Sweden)

    Ravi Yadav

    2015-01-01

    Conclusions: In this report, we have shown the efficacy of GPi DBS in the treatment of drug refractory dystonia associated camptocormia. Although only reported for PD associated camptocormia, evaluation for truncal extensor myopathy is mandatory in these cases also to achieve a good outcome.

  16. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease

    DEFF Research Database (Denmark)

    Toustrup-Jensen, Mads Schak; Einholm, Anja P.; Schack, Vivien

    2014-01-01

    The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2 and α3 isoforms, expressed in glial and neuronal cells, respectively. Although these disorders ...

  17. Intrathecal Baclofen Therapy: Benefits and Complications

    Science.gov (United States)

    Zdolsek, Helena Aniansson; Olesch, Christine; Antolovich, Giuliana; Reddihough, Dinah

    2011-01-01

    Background: Spasticity and dystonia in children with cerebral palsy has been treated with intrathecal baclofen therapy (ITB) at the Royal Children's Hospital, Melbourne, Australia (RCH) since 1999. Methods: The records of children having received or still receiving ITB during the period September 1999 until August 2005 were studied to evaluate…

  18. Attenuated Variants of Lesch-Nyhan Disease

    Science.gov (United States)

    Jinnah, H. A.; Ceballos-Picot, Irene; Torres, Rosa J.; Visser, Jasper E.; Schretlen, David J.; Verdu, Alfonso; Larovere, Laura E.; Chen, Chung-Jen; Cossu, Antonello; Wu, Chien-Hui; Sampat, Radhika; Chang, Shun-Jen; de Kremer, Raquel Dodelson; Nyhan, William; Harris, James C.; Reich, Stephen G.; Puig, Juan G.

    2010-01-01

    Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the…

  19. Lesch-Nyhan Disease.

    Science.gov (United States)

    Barabas, Gabor, Ed.

    1993-01-01

    This special edition explores the serious genetic disorder, Lesch-Nyhan Disease (LND), which is characterized by severe dystonia, spasticity, speech impairment, renal disease, varying degrees of cognitive deficit, and, especially, compulsive self-injury. The information provided is based on experience at the Matheny School and Hospital (New…

  20. Attenuated variants of Lesch-Nyhan disease.

    NARCIS (Netherlands)

    Jinnah, H.A.; Ceballos-Picot, I.; Torres, R.J.; Visser, J.E.; Schretlen, D.J.; Verdu, A.; Larovere, L.E.; Chen, C.J.; Cossu, A.; Wu, C.H.; Sampat, R.; Chang, S.J.; Kremer, R.D. de; Nyhan, W.; Harris, J.C.; Reich, S.G.; Puig, J.G.

    2010-01-01

    Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and